Biochemistry, Genetics and Molecular Biology › Genetics

Craniofacial Disorders and Treatments

Works Count: 44190

Wikipedia

Description

This cluster of papers focuses on the genetics, development, and management of craniofacial abnormalities such as craniosynostosis, Treacher Collins syndrome, and positional plagiocephaly. It explores topics such as neural crest cell formation, FGF signaling, skull vault growth, genetic mutations associated with craniofacial disorders, suture development, and the use of distraction osteogenesis for treatment.

Keywords

Craniosynostosis; Neural Crest; FGF Signaling; Skull Vault Growth; Genetic Mutations; Osteogenesis; Positional Plagiocephaly; Treacher Collins Syndrome; Suture Development; Distraction Osteogenesis

Anthropometry of the head and face

1994-01-01

Leslie G. Farkas

The second edition of this reference provides an update on the best methods for the measurement of the surfaces of the head and neck. The newest techniques are explained and … The second edition of this reference provides an update on the best methods for the measurement of the surfaces of the head and neck. The newest techniques are explained and the latest normative data on age-related changes in measurements (i.e., population norms) are completely examined in nearly 20 chapters and six appendices. Topics covered include sources of error in anthropometry and anthroposcopy; age-related changes in selected measurements of the craniofacial complex; anthropometry of minor defects in the craniofacial complex; anthropometry in craniomaxillofacial surgery, genetics, and aesthetic surgery of the nose; and anthropometry of the attractive face. Other chapters discuss the reconstruction of a photograph of a missing child, medical photography in clinical practice, interpolation of growth curves, racial and ethnic morphometric differences in the craniofacial complex, and basic statistical methods in clinical research. Complementing the text throughout are detailed illustrations and highly informative tables.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

1997-03-01

Maximilian Muenke , Karen W. Gripp , Donna M. McDonald‐McGinn +7 more

Craniosynostosis: Diagnosis, Evaluation, and Management

2001-04-01

M. Michael Cohen , Samuel Pruzansky

Craniosynostosis, the early fusion of skull sutures, is a serious abnormality of infancy and childhood. Because there are many forms of the condition, both isolated and syndromatic, proper diagnosis is … Craniosynostosis, the early fusion of skull sutures, is a serious abnormality of infancy and childhood. Because there are many forms of the condition, both isolated and syndromatic, proper diagnosis is essential before treatment could be carried out. Not only has surgical treatment advanced in recent years, but basic knowledge of sutural and molecular biology of craniosynostosis syndromes has recently come to light. Because dramatic changes have occurred in the field, particularly in molecular biology, this new edition has been rewritten and new chapters have been added on the growth of sutures, craniofacial surgery, and epidemiology and clinical correlations. The molecular basis of craniosynostosis, with emphasis on fibroblast growth receptors, and recent research on postnatal growth and the craniofacial complex, will be discussed in detail. Many new syndromes have been delineated the established conditions have been redefined.

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

2005-11-01

Gillian Morriss‐Kay , Andrew O.M. Wilkie

Abstract The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the … Abstract The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the skull vault takes place. Sutural growth involves maintenance of a population of proliferating osteoprogenitor cells which differentiate into bone matrix‐secreting osteoblasts. Sustained function of the sutures as growth centres is essential for continuous expansion of the skull vault to accommodate the growing brain. Craniosynostosis, the premature fusion of the cranial sutures, occurs in 1 in 2500 children and often presents challenging clinical problems. Until a dozen years ago, little was known about the causes of craniosynostosis but the discovery of mutations in the MSX2 , FGFR1 , FGFR2 , FGFR3 , TWIST1 and EFNB1 genes in both syndromic and non‐syndromic cases has led to considerable insights into the aetiology, classification and developmental pathology of these disorders. Investigations of the biological roles of these genes in cranial development and growth have been carried out in normal and mutant mice, elucidating their individual and interdependent roles in normal sutures and in sutures undergoing synostosis. Mouse studies have also revealed a significant correspondence between the neural crest–mesoderm boundary in the early embryonic head and the position of cranial sutures, suggesting roles for tissue interaction in suture formation, including initiation of the signalling system that characterizes the functionally active suture.

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MANDIBULAR LENGTHENING BY GRADUAL DISTRACTION

1973-05-01

C. C. SNYDER , George A. Levine , HOWARD M. SWASSON +1 more

SNYDER, CHIFFORD C. M.D.; LEVINE, GEORGE A. M.D.; SWASSON, HOWARD M. D.D.S.; BROWNE, EARL Z. JR. M.D. Author Information SNYDER, CHIFFORD C. M.D.; LEVINE, GEORGE A. M.D.; SWASSON, HOWARD M. D.D.S.; BROWNE, EARL Z. JR. M.D. Author Information

Lengthening the Human Mandible by Gradual Distraction

1992-01-01

Joseph G. McCarthy , Jonathan Schreiber , Nolan S. Karp +2 more

Lengthening of the mandible by gradual distraction was performed on four young patients (average age 78 months). The amount of mandibular bone lengthening ranged from 18 to 24 mm; one … Lengthening of the mandible by gradual distraction was performed on four young patients (average age 78 months). The amount of mandibular bone lengthening ranged from 18 to 24 mm; one patient with Nager's syndrome underwent bilateral mandibular expansion. Following the period of expansion, the patients were maintained in external fixation for an average of 9 weeks to allow ossification. The patients were followed for a minimum of 11 months to a maximum of 20 months with clinical and dental examinations as well as photographic and radiographic documentation. The technique holds promise for early reconstruction of craniofacial skeletal defects without the need for bone grafts, blood transfusion, or intermaxillary fixation.

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1994-11-01

Ethylin Wang Jabs , Xiang Li , Alan F. Scott +7 more

Periventricular Leukomalacia of Infancy

1962-11-01

Betty Q. Banker

Introduction The purpose of this report is to draw attention to a unique disease of cerebral white matter which has been encountered with great frequency among infants who died at … Introduction The purpose of this report is to draw attention to a unique disease of cerebral white matter which has been encountered with great frequency among infants who died at the Children's Hospital Medical Center, Boston. Despite the remarkably high incidence of periventricular leukomalacia, which is the name that has been chosen for this pathological entity, it has been the subject of relatively little investigation, particularly in respect to the importance of prenatal and neonatal factors in its production and in respect to the clinical manifestations and to the nature of the pathological changes. Historical Review In 1843, in a lecture concerning the deformities of the human frame, W. J. Little 1 described universal spasmodic contractures of the limbs which he attributed to abnormal factors in the perinatal period. He emphasized that the majority of these infants were born prematurely and had suffered some form of asphyxia at birth and

Cranial base development

1955-03-01

Arne Björk

Craniosynostosis: genes and mechanisms

1997-09-01

Andrew O.M. Wilkie

Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the bones, termed cranial sutures. Relatively little is known about the developmental biology of this process, … Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the bones, termed cranial sutures. Relatively little is known about the developmental biology of this process, but genetically determined disorders of premature cranial suture fusion (craniosynostosis) provide one route to the identification of some of the key molecules involved. Mutations of the MSX2, FGFR1, FGFR2, FGFR3 and TWIST genes yield new insights, both into normal and abnormal cranial suture biogenesis and into problems of broad interest, such as the conservation of molecular pathways in development, and mechanisms of mutation and dominance.

Genetic study of nonsyndromic coronal craniosynostosis

1995-02-13

Elizabeth Lajeunie , Martine Le Merrer , Catherine Bonaïti‐Pellié +2 more

From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of … From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 +/- 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases.

The differentiation and morphogenesis of craniofacial muscles

2006-02-24

Drew M. Noden , Philippa H. Francis‐West

Abstract Unraveling the complex tissue interactions necessary to generate the structural and functional diversity present among craniofacial muscles is challenging. These muscles initiate their development within a mesenchymal population bounded … Abstract Unraveling the complex tissue interactions necessary to generate the structural and functional diversity present among craniofacial muscles is challenging. These muscles initiate their development within a mesenchymal population bounded by the brain, pharyngeal endoderm, surface ectoderm, and neural crest cells. This set of spatial relations, and in particular the segmental properties of these adjacent tissues, are unique to the head. Additionally, the lack of early epithelialization in head mesoderm necessitates strategies for generating discrete myogenic foci that may differ from those operating in the trunk. Molecular data indeed indicate dissimilar methods of regulation, yet transplantation studies suggest that some head and trunk myogenic populations are interchangeable. The first goal of this review is to present key features of these diversities, identifying and comparing tissue and molecular interactions regulating myogenesis in the head and trunk. Our second focus is on the diverse morphogenetic movements exhibited by craniofacial muscles. Precursors of tongue muscles partly mimic migrations of appendicular myoblasts, whereas myoblasts destined to form extraocular muscles condense within paraxial mesoderm, then as large cohorts they cross the mesoderm:neural crest interface en route to periocular regions. Branchial muscle precursors exhibit yet another strategy, establishing contacts with neural crest populations before branchial arch formation and maintaining these relations through subsequent stages of morphogenesis. With many of the prerequisite stepping‐stones in our knowledge of craniofacial myogenesis now in place, discovering the cellular and molecular interactions necessary to initiate and sustain the differentiation and morphogenesis of these neglected craniofacial muscles is now an attainable goal. Developmental Dynamics 235:1194–1218, 2006. © 2006 Wiley‐Liss, Inc.

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

1997-01-01

Timothy D. Howard , William A. Paznekas , Eric D. Green +7 more

Nonfluoroscopic, in vivo navigation and mapping technology

1996-12-01

Shlomo A. Ben‐Haim , Daniel Osadchy , Israel Scnuster +3 more

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

1995-12-01

Gregory A. Meyers , Seth J. Orlow , Ian R. Munro +2 more

Clinical outcomes of vertical bone augmentation to enable dental implant placement: a systematic review

2008-08-26

Isabella Rocchietta , Filippo Fontana , Massimo Simion

Abstract Background: This review addressed the focused question of what is the predictability of vertical ridge augmentation techniques for patients, who were diagnosed with insufficient alveolar bone volume for the … Abstract Background: This review addressed the focused question of what is the predictability of vertical ridge augmentation techniques for patients, who were diagnosed with insufficient alveolar bone volume for the placement of dental implants. Material and Methods: A systematic online review of three main databases was performed between 1966 and 1 November 2007. Four groups of vertical bone augmentation techniques have been identified and evaluated: (1) guided bone regeneration, (2) distraction osteogenesis, (3) onlay bone grafting, and (4) an array of different techniques. Data extraction was based on the following outcomes: (a) success and failure rate of the procedure (vertical bone gain/loss), (b) complication rate of the procedure, and (c) implant survival, success and failure rate. Results: The initial search identified 189 papers from the electronic database. The review produced seven papers for GBR, 13 reporting distraction osteogenesis, five for onlay bone grafting and three describing different techniques. Conclusions: For the concept of vertical ridge augmentation to enable dental implant placement, there are clinical and histological data supporting its potential use. Given the confined number of investigators using these techniques and the low number of patient treatments reported in the literature, the generalizability of this approach is limited at this time.

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Management of Severe Maxillary Deficiency in Childhood and Adolescence Through Distraction Osteogenesis With an External, Adjustable, Rigid Distraction Device

1997-05-01

John W. Polley , Álvaro A. Figueroa

We present our technique for maxillary distraction osteogenesis in patients with severe maxillary hypoplasia. With the use of an external, adjustable, rigid distraction device, we can now treat patients with … We present our technique for maxillary distraction osteogenesis in patients with severe maxillary hypoplasia. With the use of an external, adjustable, rigid distraction device, we can now treat patients with severe maxillary hypoplasia with a precise and controlled distraction process, obtaining predictable results. This technique has allowed us to treat patients in all age groups. In this report we review our indications for maxillary distraction and describe our technique using an external, adjustable, rigid midface distraction device.

The therian skull : a lexicon with emphasis on the odontocetes

2009-01-01

James G. Mead , R. Ewan Fordyce

Intracranial pressure in craniostenosis

1982-09-01

Dominique Rénier , Christian Sainte‐Rose , Daniel Marchac +1 more

In this study, intracranial pressure (ICP) was recorded with an epidural sensor for periods of 12 to 24 hours in 92 cases of craniosynostosis. Pre- and postoperative recordings were performed … In this study, intracranial pressure (ICP) was recorded with an epidural sensor for periods of 12 to 24 hours in 92 cases of craniosynostosis. Pre- and postoperative recordings were performed in 23 patients, and 55 children underwent preoperative psychometric testing. The ICP was found to be normal in one-third of the cases, was obviously elevated in one-third, and was borderline in one-third. Waves of increased ICP were recorded during rapid eye movement (REM) sleep. After surgery, ICP decreased progressively and returned to normal in several weeks. A significant statistical relationship was found between the patients' ICP and their mental level: the higher the ICP the lower the mental level. The regression curve of ICP as a function of age shows that ICP is maximal at the age of 6 years and decreases later. The significance of these results is discussed. The authors recommend that ICP be recorded in cases of craniosynostosis since it is of some help in deciding whether patients should undergo surgery.

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

1996-02-01

The Treacher Collins Syndrome Colla , Jill Dixon , Sara J. Edwards +6 more

Sutural biology and the correlates of craniosynostosis

1993-10-01

Maimon M. Cohen

Abstract The purpose of this paper is to provide a new perspective on craniosynostosis by correlating what is known about sutural biology with the events of craniosynostosis per se. A … Abstract The purpose of this paper is to provide a new perspective on craniosynostosis by correlating what is known about sutural biology with the events of craniosynostosis per se. A number of key points emerge from this analysis: (1) Sutural initiation may take place by over lapping, which results in beveled sutures, or by end‐to‐end approximation, which produces nonbeveled, end‐to‐end sutures. All end‐to‐end sutures occur in the midline (e.g., sagittal and metopic) probably because embryonic biomechanical forces on either side of the initiating suture tend to be equal in magnitude. A correlate appears to be that only synostosed sutures of the midline have pronounced bony ridging. (2) Long‐term histologic observations of the sutural life cycle call into question the number of layers within sutures. The structure varies not only in different sutures, but also within the same suture over time. (3) Few, if any, of the many elegant experimental research studies in the field of sutural biology have increased our under standing of craniosynostosis per se. An understanding of the pathogenesis of craniosyn ostosis requires a genetic animal model with primary craniosynostosis and molecular techniques to understand the gene defect. This may allow insight into pathogenetic mechanisms involved in primary craniosynostosis. It may prove to be quite heterogeneous at the basic level. (4) The relationship between suture closure, cessation of growth, and functional demands across sutures poses questions about various biological relationships. Two conclusions are provocative. First, cessation of growth does not necessarily, or always lead to fusion of sutures. Second, although patent sutures aid in the growth process, some growth can take place after suture closure. (5) In an affected suture, craniosynostosis usually begins at a single point and then spreads along the suture. This has been shown by serial sectioning and calls into question results of studies in which the affected sutures are only histologically sampled. (6) Craniosynostosis is etiologically and pathogenetically heterogeneous. Known human causes are reviewed. Is craniosynostosis simply normal suture closure commencing too early? In hyperthyroidism, this is probably the case, but in Apert syndrome, true sutures in the sagittal and metopic regions fail to form ab initio. The actual mechanisms that result in pathologic synostosis, although incompletely understood, must be heterogeneous in nature. (7) Special topics are analyzed and discussed including fetal head constraint, the calvaria in Apert syndrome and holoprosencephaly, a critique of Moss's theory, calcified cephalohematoma, secondary cartilage, paradoxical craniosynostosis, and delayed suture closure. (8) The effect of craniosynostosis on the calvaria and the cranial base is discussed; it is shown that the relationship between the calvaria and the cranial base varies and reflects several different factors such as whether or not the basal portion of the coronal ring is involved and whether the synostosis is isolated or syndromic. (9) Simple craniosynostosis involving the coronal suture may produce significant effects on the midface. Restricted coronal suture growth is the primary effect, changes in the cranial base the secondary effect, and foreshortening of the midface the tertiary effect. The effects follow a temporal sequence. In general, the degree of midface shortening is a function of which suture is restricted from growing, how early growth restriction of the suture takes place, and how much time elapses before measuring the effects on the midface. This model of craniofacial change is only applicable to simple craniosynostosis, not to cases with complete coronal ring involvement or to syndromic cases such as Apert or Crouzon syndromes. © 1993 Wiley‐Liss, Inc.

The suture provides a niche for mesenchymal stem cells of craniofacial bones

2015-03-23

Hu Zhao , Jifan Feng , Thach‐Vu Ho +3 more

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Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth

2003-05-20

Kai Yu , Jian Xu , Zhonghao Liu +5 more

Human craniosynostosis syndromes, resulting from activating or neomorphic mutations in fibroblast growth factor receptor 2 (FGFR2), underscore an essential role for FGFR2 signaling in skeletal development. Embryos harboring homozygous null … Human craniosynostosis syndromes, resulting from activating or neomorphic mutations in fibroblast growth factor receptor 2 (FGFR2), underscore an essential role for FGFR2 signaling in skeletal development. Embryos harboring homozygous null mutations in FGFR2 die prior to skeletogenesis. To address the role of FGFR2 in normal bone development, a conditional gene deletion approach was adopted. Homologous introduction of cre recombinase into the Dermo1 (Twist2) gene locus resulted in robust expression of CRE in mesenchymal condensations giving rise to both osteoblast and chondrocyte lineages. Inactivation of a floxed Fgfr2 allele with Dermo1-cre resulted in mice with skeletal dwarfism and decreased bone density. Although differentiation of the osteoblast lineage was not disturbed, the proliferation of osteoprogenitors and the anabolic function of mature osteoblasts were severely affected.

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Three dimensional CT reconstruction images for craniofacial surgical planning and evaluation.

1984-01-01

Michael W. Vannier , Jeffrey L. Marsh , JEAN WARREN

Three dimensional reconstruction images of bony and soft tissue surfaces have improved understanding of complex facial deformities. Applied to CT studies of complex craniofacial abnormalities, this method has delineated abnormal … Three dimensional reconstruction images of bony and soft tissue surfaces have improved understanding of complex facial deformities. Applied to CT studies of complex craniofacial abnormalities, this method has delineated abnormal facial soft tissue and bony morphology, facilitated surgical planning, and improved quantitative postoperative evaluation. Advanced computer-aided aircraft design techniques were adapted and applied to craniofacial surgical procedure-planning and evaluation using surface contours obtained from CT scans.

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

2008-02-01

N C Jones , Megan L. Lynn , Karin Gaudenz +7 more

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

1995-02-01

Andrew O.M. Wilkie , Sarah F. Slaney , Michael Oldridge +7 more

Cranial sutures as intramembranous bone growth sites

2000-01-01

Lynne A. Opperman

Intramembranous bone growth is achieved through bone formation within a periosteum or by bone formation at sutures. Sutures are formed during embryonic development at the sites of approximation of the … Intramembranous bone growth is achieved through bone formation within a periosteum or by bone formation at sutures. Sutures are formed during embryonic development at the sites of approximation of the membranous bones of the craniofacial skeleton. They serve as the major sites of bone expansion during postnatal craniofacial growth. For sutures to function as intramembranous bone growth sites, they need to remain in an unossified state, yet allow new bone to be formed at the edges of the overlapping bone fronts. This process relies on the production of sufficient new bone cells to be recruited into the bone fronts, while ensuring that the cells within the suture remain undifferentiated. Unlike endochondral growth plates, which expand through chondrocyte hypertrophy, sutures do not have intrinsic growth potential. Rather, they produce new bone at the sutural edges of the bone fronts in response to external stimuli, such as signals arising from the expanding neurocranium. This process allows growth of the cranial vault to be coordinated with growth of the neurocranium. Too little or delayed bone growth will result in wide-open fontanels and suture agenesis, whereas too much or accelerated bone growth will result in osseous obliteration of the sutures or craniosynostosis. Craniosynostosis in humans, suture fusion in animals, and induced suture obliteration in vitro has been associated with mutations or alterations in expression of several transcription factors, growth factors, and their receptors. Much of the data concerning signaling within sutures has been garnered from research on cranial sutures; hence, only the cranial sutures will be discussed in detail in this review. This review synthesizes classic descriptions of suture growth and pathology with modern molecular analysis of genetics and cell function in normal and abnormal suture morphogenesis and growth in a unifying hypothesis. At the same time, the reader is reminded of the importance of the suture as an intramembranous bone growth site. © 2000 Wiley-Liss, Inc.

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Mutations of the TWIST gene in the Saethre-Chotzene syndrome

1997-01-01

Vincent El Ghouzzi , M Le Merrer , Fabienne Perrin‐Schmitt +7 more

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1994-09-01

William Reardon , Robin M. Winter , Paul Rutland +3 more

Deformity and Character

1980-12-19

Pasquale Accardo

THROUGH the first half of the 19th century, obstetric textbooks stated that asphyxiated babies either died or recovered completely. William John Little described the possibility of a third outcome—movement disorders … THROUGH the first half of the 19th century, obstetric textbooks stated that asphyxiated babies either died or recovered completely. William John Little described the possibility of a third outcome—movement disorders that would not become apparent until a year or more after the initial insult. In the discussion following the delivery of his classic paper on cerebral palsy before the London Obstetrical Society,<sup>1</sup>Dr Little mentioned that he had not found any references to the long-term effects of abnormal and premature parturition in the medical literature. Recognizing the novelty of his insight, he had recourse to Shakespeare for the earliest suggestion of adult deformity secondary to neonatal asphyxia. Without criticizing the historical accuracy of Shakespeare's portrait of King Richard III, he was convinced that the poetic description of Richard's physical and moral character was "exactly that of an individual afflicted with one kind of deformity originating at birth." Delivered after

Distraction osteogenesis in maxillofacial surgery using internal devices: Review of five cases

1996-01-01

Martin Chin , Bryant A. Toth

Genetics of craniofacial development and malformation

2001-06-01

Andrew O.M. Wilkie , Gillian Morriss‐Kay

Mandibular Elongation and Remodeling by Distraction

1995-09-01

Fernando Molina , Fernando Ortíz Monasterio

Servicio de Cirugia Plastica y Reconstructiva Hospital "Manuel Gea Gonzalez" Calzada de Tialpam 4800 Mexico, D.F. 14000 A modified technique for mandibular distraction is reported: An oblique corticotomy is made … Servicio de Cirugia Plastica y Reconstructiva Hospital "Manuel Gea Gonzalez" Calzada de Tialpam 4800 Mexico, D.F. 14000 A modified technique for mandibular distraction is reported: An oblique corticotomy is made in the external cortex of the mandible at the level of the gonial angle. Two intraosseous stainless steel pins are inserted and are joined by a softer distraction screw. We make two corticotomies, one horizontal and one vertical, and insert three pins to achieve bidirectional distraction when the mandibular body and the ascending ramus are hypoplasic. This procedure has been used in 87 patients with unilateral hemifacial microsomia and 19 patients with bilateral mandibular hypoplasia. A mean elongation of 19 mm was obtained in the unilateral group. In the bilateral cases a mean vertical elongation of [7.5 mm and a mean horizontal elongation of 14 mm were obtained. A great improvement of the facial asymmetry was achieved in all the patients. The follow-up in this series varies from 3 months to 31/2 years (mean, 19 months in unilateral cases and 12 months in bilateral cases). No relapses have been observed. (Plast. Reconstr. Surg. 96: 825, 1995.)

The primary role of functional matrices in facial growth

1969-06-01

Melvin L. Moss , Letty Salentijn

The pathogenesis of the first and second branchial arch syndrome

1973-03-01

D E Poswillo

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1995-02-01

Paul Rutland , Louise J. Pulleyn , William Reardon +7 more

Integration of FGF and TWIST in calvarial bone and suture development

2000-05-01

David Rice , Thomas Åberg , Yan-Shun Chan +5 more

ABSTRACT Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. Although clinically achieving the same end result, … ABSTRACT Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. Although clinically achieving the same end result, the premature fusion of the calvarial bones, it is not known whether these genes lie in the same or independent pathways during calvarial bone development and later in suture closure. We have previously shown that Fgfr2c is expressed at the osteogenic fronts of the developing calvarial bones and that, when FGF is applied via beads to the osteogenic fronts, suture closure is accelerated (Kim, H.-J., Rice, D. P. C., Kettunen, P. J. and Thesleff, I. (1998)Development 125, 1241-1251). In order to investigate further the role of FGF signalling during mouse calvarial bone and suture development, we have performed detailed expression analysis of the splicing variants of Fgfr1-Fgfr3 and Fgfr4, as well as their potential ligand Fgf2. The IIIc splice variants of Fgfr1-Fgfr3 as well as the IIIb variant of Fgfr2 being expressed by differentiating osteoblasts at the osteogenic fronts (E15). In comparison to Fgf9, Fgf2 showed a more restricted expression pattern being primarily expressed in the sutural mesenchyme between the osteogenic fronts. We also carried out a detailed expression analysis of the helix-loop-helix factors (HLH) Twist and Id1 during calvaria and suture development (E10-P6). Twist and Id1 were expressed by early preosteoblasts, in patterns that overlapped those of the FGF ligands, but as these cells differentiated their expression dramatically decreased. Signalling pathways were further studied in vitro, in E15 mouse calvarial explants. Beads soaked in FGF2 induced Twist and inhibited Bsp, a marker of functioning osteoblasts. Meanwhile, BMP2 upregulated Id1. Id1 is a dominant negative HLH thought to inhibit basic HLH such as Twist. In Drosophila, the FGF receptor FR1 is known to be downstream of Twist. We demonstrated that in Twist+/− mice, FGFR2 protein expression was altered. We propose a model of osteoblast differentiation integrating Twist and FGF in the same pathway, in which FGF acts both at early and late stages. Disruption of this pathway may lead to craniosynostosis.

Tissue Origins and Interactions in the Mammalian Skull Vault

2002-01-01

Xiaobing Jiang , Sachiko Iseki , Robert E. Maxson +2 more

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FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development

1998-04-01

Hyun‐Jung Kim , David Rice , Päivi Kettunen +1 more

ABSTRACT The development of calvarial bones is tightly co-ordinated with the growth of the brain and needs harmonious interactions between different tissues within the calvarial sutures. Premature fusion of cranial … ABSTRACT The development of calvarial bones is tightly co-ordinated with the growth of the brain and needs harmonious interactions between different tissues within the calvarial sutures. Premature fusion of cranial sutures, known as craniosynostosis, presumably involves disturbance of these interactions. Mutations in the homeobox gene Msx2 as well as the FGF receptors cause human craniosynostosis syndromes. Our histological analysis of mouse calvarial development demonstrated morphological differences in the sagittal suture between embryonic and postnatal stages. In vitro culture of mouse calvaria showed that embryonic, but not postnatal, dura mater regulated suture patency. We next analysed by in situ hybridisation the expression of several genes, which are known to act in conserved signalling pathways, in the sagittal suture during embryonic (E15-E18) and postnatal stages (P1-P6). Msx1 and Msx2 were expressed in the sutural mesenchyme and the dura mater. FGFR2(BEK), as well as Bmp2 and Bmp4, were intensely expressed in the osteogenic fronts and Bmp4 also in the mesenchyme of the sagittal suture and in the dura mater. Fgf9 was expressed throughout the calvarial mesenchyme, the dura mater, the developing bones and the overlying skin, but Fgf4 was not detected in these tissues. Interestingly, Shh and Ptc started to be expressed in patched pattern along the osteogenic fronts at the end of embryonic development and, at this time, the expression of Bmp4 and sequentially those of Msx2 and Bmp2 were reduced, and they also acquired patched expression patterns. The expression of Msx2 in the dura mater disappeared after birth. FGF and BMP signalling pathways were further examined in vitro, in E15 mouse calvarial explants. Interestingly, beads soaked in FGF4 accelerated sutural closure when placed on the osteogenic fronts, but had no such effect when placed on the mid-sutural mesenchyme. BMP4 beads caused an increase in tissue volume both when placed on the osteogenic fronts and on the mid-sutural area, but did not effect suture closure. BMP4 induced the expression of both Msx1 and Msx2 genes in sutural tissue, while FGF4 induced only Msx1. We suggest that the local application of FGF on the osteogenic fronts accelerating suture closure in vitro, mimics the pathogenesis of human craniosynostosis syndromes in which mutations in the FGF receptor genes apparently cause constitutive activation of the receptors. Taken together, our data suggest that conserved signalling pathways regulate tissue interactions during suture morphogenesis and intramembranous bone formation of the calvaria and that morphogenesis of mouse sagittal suture is controlled by different molecular mechanisms during the embryonic and postnatal stages. Signals from the dura mater may regulate the maintenance of sutural patency prenatally, whereas signals in the osteogenic fronts dominate after birth.

Airway adequacy, head posture, and craniofacial morphology

1984-09-01

Beni Solow , S Siersbaek-Nielsen , Ellen Greve

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1994-11-01

Maximilian Muenke , Ute Schell , Andreas Hehr +7 more

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

1993-11-01

Ethylin Wang Jabs , Ulrich Müller , Xiang Li +7 more

Dental and facial asymmetries: a review.

1994-01-01

Samir E. Bishara , Paul S. Burkey , John G. Kharouf

Asymmetry in the face and dentition is a naturally occurring phenomenon. In most cases facial asymmetry can only be detected by comparing homologous parts of the face. The etiology of … Asymmetry in the face and dentition is a naturally occurring phenomenon. In most cases facial asymmetry can only be detected by comparing homologous parts of the face. The etiology of asymmetry includes: a) Genetic or congenital malformations e.g. hemifacial microsomia and unilateral clefts of the lip and palate; b) Environmental factors, e.g. habits and trauma; c) Functional deviations, e.g. mandibular shifts as a result of tooth interferences. Dental asymmetries and a variety of functional deviations can be treated orthodontically. On the other hand, significant structural facial asymmetries are not easily amenable to orthodontic treatment. These problems may require orthopedic correction during the growth period and/or surgical management at a later point. Patient complaints and desires need to be addressed since they may vary from unrealistic expectations to a lack of concern even in the presence of large deviations. With mild dental, skeletal and soft tissue deviations the advisability of treatment should be carefully considered.

Heritable Disorders of Connective Tissue.

1973-07-01

J. S. Lawrence

CRANIOSYNOSTOSIS: A REVIEW OF 519 SURGICAL PATIENTS

1968-04-01

John Shillito , Donald D. Matson

A review has been made of 519 patients with craniosynostosis operated upon at The Children's Hospital Medical Center from 1930 through 1966. The mortality rate was 0.39% and the overall … A review has been made of 519 patients with craniosynostosis operated upon at The Children's Hospital Medical Center from 1930 through 1966. The mortality rate was 0.39% and the overall morbidity rate was 14%. Lasting undesirable sequelae occurred in only 0.58%. Operation is carried out primarily for cosmetic purposes with the realization that by thus allowing the brain to resume its normal shape the possibility of any brain damage, local or general, has been minimized. Surgical technique is outlined. The frequency of the various combinations of suture closure, associated congenital abnormalities, familial incidence, occurrence of increased intracranial pressure, and the presence of a patent anterior fontanelle are indicated. The importance of partial involvement of a suture in the diagnosis and apparent progression of the condition is noted.

Craniosynostosis

2011-01-19

David Johnson , Andrew O.M. Wilkie

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Lengthening the Human Mandible by Gradual Distraction

1992-01-01

Joseph G. McCarthy , Jonathan Schreiber , Nolan S. Karp +2 more

Vertebrate Limb and Somite Morphogenesis

1979-06-01

Roberto Narbaitz

Discussion: The Evolution of Unicoronal Synostosis Correction: Long-Term Aesthetics of Fronto-Orbital Distraction versus Advancement

2025-06-25

Jeffrey A. Fearon | Plastic & Reconstructive Surgery

Surgical Methods for Facial Symmetry Restoration in Orthognathic Surgery for Hemifacial Microsomia: Bilateral Sagittal Split Ramus Osteotomy versus Inverted L Osteotomy

2025-06-24

Jang-Ho Son , J. Jeon | International Journal of Oral and Maxillofacial Surgery

Parents Related Outcome Measures after Fronto-Orbital Advancement and Cranioplasty in The Management of Craniosynostosis.

2025-06-24

Haider Alalawy | International Journal of Oral and Maxillofacial Surgery

Postoperative Hyponatremia Following Open Cranial Vault Reconstruction in Non-Syndromic Craniosynostosis

2025-06-24

Evangelos Kilipiris , František Horn , Efraín Álvarez Martínez +1 more | International Journal of Oral and Maxillofacial Surgery

Midfacial Changes in Hemifacial Microsomia: A CT-Based Cephalometric Analysis

2025-06-24

Mustafa Mian | International Journal of Oral and Maxillofacial Surgery

Standardized Pre-Surgical and Surgical Strategies for Cleft Repair in Patients with Pierre Robin Sequence

2025-06-24

Eva Hofmann | International Journal of Oral and Maxillofacial Surgery

Osteogenic Distraction with RED Device and Lefort III Osteotomy in Patient with Crouzon Syndrome

2025-06-24

Julio Martínez | International Journal of Oral and Maxillofacial Surgery

Craniostenosis Management: Our First Steps

2025-06-24

K. Hirache , K. Belhazadji | International Journal of Oral and Maxillofacial Surgery

Changes in Upper Airway Following Midface Advancement in Children with Craniosynostosis Syndrome: A Systematic Review

2025-06-24

F. Fitriana , Firdaus Hariri , Muhammad Ruslin | International Journal of Oral and Maxillofacial Surgery

Bilateral Malar Reconstruction in Treacher Collins Syndrome with Virtual Surgical Plan & 3D Guided Surgery

2025-06-24

M. Halsnad , Christopher Turner , Dieta Brandsma +3 more | International Journal of Oral and Maxillofacial Surgery

Patient specific implants for hemifacial microsomia management

2025-06-24

Chye Yew Ng , Stassen LFA | International Journal of Oral and Maxillofacial Surgery

The application of digital technology in the treatment of hemifacial microsomia

2025-06-24

Hao Yu , Steve Guofang Shen | International Journal of Oral and Maxillofacial Surgery

Innovative Approach to Maxillofacial Bone Defects: Integration of Customized 3D Printed Titanium Implant and Ready-Made Distractors

2025-06-24

U. Lee | International Journal of Oral and Maxillofacial Surgery

Postoperative Stability of Posterior Airway Space Following Orthognathic Surgery in Class III Deformity Patients: Systematic Review and Meta-Analysis

2025-06-24

Nir Grinberg , Oren Peleg | International Journal of Oral and Maxillofacial Surgery

Three-Dimensional Dento-Skeletal Effects of Mandibular Midline Distraction Using a Tooth-Borne Device: A Retrospective Study

2025-06-24

Lukas Vaes | International Journal of Oral and Maxillofacial Surgery

The Comparisons of Segmental Mandible Osteotomy With or Without Osseous Genioplasty

2025-06-24

Dimas Prasetianto Wicaksono , Pi‐Tai Chou | International Journal of Oral and Maxillofacial Surgery

Do Simultaneous Bimaxillary Orthognathic Surgery and Condylectomy for Hemi-mandibular Elongation/Hyperplasia Provide Long-Term Stability

2025-06-24

Melis Haydarpasa-Yalcin , Canseda Avağ , Altan Varol | International Journal of Oral and Maxillofacial Surgery

Innovative Dentofacial Deformity Treatment Using Surgery-First Orthognathic and Clear Aligner Therapy

2025-06-24

Mai P. Nguyen | International Journal of Oral and Maxillofacial Surgery

Clinical Evaluation of LeFort III Osteotomy Distraction Osteogenesis With an Advancement Gap in Latency Period for Treatment of OSA in Pediatric Patients With Syndromic Craniosynostosis

2025-06-24

Yi Zhang | International Journal of Oral and Maxillofacial Surgery

Genetic Factors Underlying Mandibular Prognathism: Insights from Recent Human and Animal Studies

2025-06-24

He Fang , Ruiye Bi , Songsong Zhu | International Journal of Oral and Maxillofacial Surgery

Endoscopic Craniosynostosis Surgery – Early Experience and Outcomes in the Scottish National Craniofacial Service

2025-06-24

Amaan Shafi , G. Zotos , Matthew Dixon +4 more | International Journal of Oral and Maxillofacial Surgery

Management of "Failed Costochondral Grafts" in Craniofacial Microsomia (CFM) Patients with Definitive Orthognathic Surgery Combined with TMJ Alloplastic Reconstruction

2025-06-24

Rahul Kumar | International Journal of Oral and Maxillofacial Surgery

Using 3D Virtual Planning and 3D Printed Surgical Guides in Craniosynostosis Treatment

2025-06-24

Arico C. Verhulst , Marloes Nienhuijs , Thomas Maal | International Journal of Oral and Maxillofacial Surgery

Functional and Esthetic Outcomes in Hemifacial Microsomia Patients Undergoing Orthognathic Surgery Without TMJ Reconstruction

2025-06-24

Harini Chakrika , Vidya Rattan , S. Jolly | International Journal of Oral and Maxillofacial Surgery

Orthognathic Surgery in Craniofacial Patients at a Tertiary Maxillofacial Centre: A 15-Year Retrospective Review of Surgical Interventions and Trends

2025-06-24

H. Al-nakishbandi | International Journal of Oral and Maxillofacial Surgery

Neoforehead Remodelling Techniques for Fronto-Orbital Advancement and Remodelling Using a Novel Central Self-Stabilizing S-Osteotomy Technique

2025-06-24

JK Dayashankara Rao | International Journal of Oral and Maxillofacial Surgery

Detection Of A New Heterozygous Pathogenic NFIA Variant In Metopic Craniosynostosis With Polydactyly

2025-06-24

Amaan Shafi , Sipho Simon Nhongo , Eilidh Simpson +2 more | International Journal of Oral and Maxillofacial Surgery

Mandibular Osteodistraction in Pierre Robin Sequence Patient: A Serial Case Report

2025-06-24

Khriztie Limanthara | International Journal of Oral and Maxillofacial Surgery

Endoscopic Treatment of Isolated Lambdoid Craniosynostosis: How Old Is Too Old?

2025-06-24

Vincent Aquino , Ziyad Makoshi , Ana Arias +1 more | International Journal of Oral and Maxillofacial Surgery

ER-induced PERK/TFEB cascade sequentially modulates mitochondrial dynamics during cranial suture expansion

2025-06-23

Jingjing Cai , Ziyang Min , Chaoyuan Li +3 more | Bone Research

The effectiveness of cranial suture expansion therapy hinges on the timely and adequate regeneration of bone tissue in response to mechanical stimuli. To optimize clinical outcomes and prevent post-expansion relapse, … The effectiveness of cranial suture expansion therapy hinges on the timely and adequate regeneration of bone tissue in response to mechanical stimuli. To optimize clinical outcomes and prevent post-expansion relapse, we delved into the underlying mechanisms governing bone remodeling during the processes of suture expansion and relapse. Our findings revealed that in vitro stretching bolstered mesenchymal stem cells' antioxidative and osteogenic capacity by orchestrating mitochondrial activities, which governed by force-induced endoplasmic reticulum (ER) stress. Nonetheless, this signal transduction occurred through the activation of protein kinase R-like ER kinase (PERK) at the ER-mitochondria interface, rather than ER-mitochondria calcium flow as previously reported. Subsequently, PERK activation triggered TFEB translocation to the nucleus, thus regulating mitochondrial dynamics transcriptionally. Assessment of the mitochondrial pool during expansion and relapse unveiled a sequential, two-phase regulation governed by the ER stress/p-PERK/TFEB signaling cascade. Initially, PERK activation facilitated TFEB nuclear localization, stimulating mitochondrial biogenesis through PGC1-α, thereby addressing energy demands during the initial phase. Subsequently, TFEB shifted focus towards ensuring adequate mitophagy for mitochondrial quality maintenance during the remodeling process. Premature withdrawal of expanding force disrupted this sequential regulation, leading to compromised mitophagy and the accumulation of dysfunctional mitochondria, culminating in suboptimal bone regeneration and relapse. Notably, pharmacological activation of mitophagy effectively mitigated relapse and attenuated bone loss, while its inhibition impeded anticipated bone growth in remodeling progress. Conclusively, we elucidated the ER stress/p-PERK/TFEB signaling orchestrated sequential mitochondria biogenesis and mitophagy under mechanical stretch, thus ensuring antioxidative capacity and osteogenic potential of cranial suture tissues.

Commentary on: “Use of orthotic helmets in children with positional plagiocephaly and brachycephaly: a systematic review”

2025-06-21

Venkata Dileep Kumar Veldi , Rachana Mehta , Ranjana Sah | Child s Nervous System

Cranial Remolding Orthosis Therapy for Positional Deformational Head Shape Abnormalities: The Parental Perspective

2025-06-20

Sai Cherukuri , Jainaha Srikumar , Alexandre Meira Pazelli +6 more | The Cleft Palate-Craniofacial Journal

Objective We aimed to understand the impact of Cranial Remolding Orthotic therapy (CRO) on the quality of life of both infants with positional deformational head shape abnormalities (PDHSAs), including plagiocephaly … Objective We aimed to understand the impact of Cranial Remolding Orthotic therapy (CRO) on the quality of life of both infants with positional deformational head shape abnormalities (PDHSAs), including plagiocephaly and brachycephaly, and their caregivers. Design Survey study. Setting A single, tertiary academic center. Patients, Participants Families of infants with PDHSAs who underwent CRO between 2007 and 2022. Interventions CRO. Main Outcome Measure(s) Subjective assessment of caregiver perspectives. Results We obtained 242 responses (72% male) from 1013 patients contacted (response rate 23.9%). CRO was initiated at a median age of 6 months (IQR 5-7 months), with a median treatment duration of 4 months (IQR 3-5 months). Insurance covered costs fully for 9.8% of respondents and partially for 47.0%; 43.2% paid completely out-of-pocket. Most were “very satisfied” or “satisfied” with head shape (89.2%) and ear position (93.3%). CRO did not impact children's sleep (75.2%), “never” or “rarely” impacted children's play (90.5%), and never impacted most families’ attendance of social events (91.3%). Hair loss was temporary in 29.9% and permanent in 0.8%. Most families did not find CRO burdensome (73.1%) and “never” or “rarely” felt fatigued (68.5%). Conclusions The study sheds light on the mental and social effects of CRO on patients and caregivers, as well as physical adverse effects associated with treatment. Overall, patients’ families expressed satisfaction with results and felt that administering CRO had minimal negative impacts on themselves and their children.

Apert Syndrome

2025-06-20

Priyansh Gupta , Priyanka Sangwan , Vishal Thakur | Indian Dermatology Online Journal

Commentary on, “Mandibular swing approach: 25 years of experience at Istituto Nazionale Tumori of Milan”

2025-06-19

Gurdeep Gambhir | Oral Oncology

Airway management of a Crouzon syndromic child with mid face distractor in situ for redo osteotomy

2025-06-18

Kruthika Sree Manoharan , Sunil Rajan , Jerry Paul +1 more | Journal of Anaesthesiology Clinical Pharmacology

A Rare Case of Apert Syndrome in a Tanzanian Newborn: Diagnosis and Management Challenges in a National Tertiary Hospital

2025-06-18

Raymond Leiya , Martine M Sosoma , Peter Msinde +2 more | Clinical Reviews & Cases

Introduction: Apert syndrome is a rare congenital condition characterized by coronal craniosynostosis, ex orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. This condition is also … Introduction: Apert syndrome is a rare congenital condition characterized by coronal craniosynostosis, ex orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. This condition is also known as acrocephalosyndactyly type 1. Apert syndrome is linked by autosomal dominant inheritance to fibroblast growth factors receptor gene alteration. Case Report: This is the case report of a 42 days old baby who presented with classical facial features of Apert syndrome. Syndactyly of both fingers and toes. He was born from non-consanguineous parents, his father being 44 years old when the baby was born. An X-ray of the skull revealed increase in anterior posterior diameter of the skull, while cranial ultra sound depicted no evidence of space occupying lesions, no evidence of extra axial collection with no signs of midline shift. X-ray of hands and feet revealed the pathognomonic syndactyly of the disease. Conclusion: There is a paucity of data about Apert Syndrome in African countries. Which poses the emphasis on the advocacy of this condition in African countries for more cases to be reported to capacitate the healthcare workers to diagnose and treat this rare condition properly. Given the limitations of genetic testing and prenatal screening in the region, this case call for action for the need to increase awareness, early intervention and genetic counseling to guide treatment decisions and improve outcomes.

Quality of Life in Craniofacial Microsomia: Resilience Through Young Adulthood

2025-06-16

Dominic J. Romeo , Leigh Friedman , Manisha Banala +7 more | The Cleft Palate-Craniofacial Journal

Objective While studies have analyzed the quality of life (QOL) in children with craniofacial microsomia (CFM), little is known about QOL in adults with CFM. This study compares QOL in … Objective While studies have analyzed the quality of life (QOL) in children with craniofacial microsomia (CFM), little is known about QOL in adults with CFM. This study compares QOL in adults with CFM to a comparative group using a validated questionnaire. Design Cross-sectional. Setting Tertiary care center. Patients, Participants Adults aged 18 years or older with CFM were contacted and administered the World Health Organization (WHO) QOL Biomedical Research and Educating Foundation questionnaire. Main Outcome Measure(s) Quality of life in adults with CFM. Results One hundred and fourteen patients met inclusion criteria, 40 (35.1%) were successfully contacted, and 28 (24.6%) completed the questionnaire in 8.6 ± 2.6 min. Respondents were 23.3 ± 4.6 years old (minimum 18.4, maximum 32.8 years) with 16 (57.1%) females and 12 (42.9%) males. This cohort of adults with CFM scored lower in the physical domain (13.8 ± 1.7 vs 15.5 ± 3.2, P < .01), similar in the psychological (14.7 ± 1.9 vs 13.8 ± 3.2, P > .05), and higher in both the social (16.0 ± 3.2 vs 13.2 ± 3.2, P < .01) and environmental (16.8 ± 1.6 vs 11.7 ± 2.7, P < .01) domains than the WHO norm sample. There was no association between overall phenotypic severity or craniofacial surgical burden and QOL ( P > .05). Conclusions Adults treated for CFM perceive their physical health QOL to be lower than the WHO norms but report higher QOL in the social and environmental domains. Adult patients with CFM may demonstrate resilience and can live high-quality lives. These results underscore that their lives are not defined by CFM.

Assessing Parents’ Perceived Stress, Psychological Distress, and Health-Related Quality of Life Before and One Year After Their Child's Craniosynostosis Surgery

2025-06-16

Anna Stenson Zerpe , Mia Ramklint , Daniel Nowinski +1 more | The Cleft Palate-Craniofacial Journal

Objective Assessing parents’ perceived stress, psychological distress, and health-related quality of life (HRQoL) before their child's craniosynostosis surgery and one year after. Setting/Participants Parents of children with nonsyndromic craniosynostosis, scheduled … Objective Assessing parents’ perceived stress, psychological distress, and health-related quality of life (HRQoL) before their child's craniosynostosis surgery and one year after. Setting/Participants Parents of children with nonsyndromic craniosynostosis, scheduled to undergo surgery at the Uppsala Craniofacial Centre, were invited to participate. Data were collected between May 2016 and February 2025. There were 157 eligible patients; 103 (66%) parents participated, and 29 (28%) provided data at both time points. Main Outcome Measures: Swedish parenting stress questionnaire (SPSQ), Hopkins Symptom Checklist (HSCL-25), EQ VAS. Results The HSCL-25 total score and the subscale depression were rated higher before the surgery than one year after. There were no differences in the SPSQ total score, or EQ VAS scores before and after surgery, but parents rated their feelings of incompetence higher at follow-up. Participants did not report more parental stress on SPSQ subscales than the average population of parents, either before or after surgery. Before surgery, SPSQ subscales incompetence and role restriction were associated with symptoms of depression. After, the association between these subscales remained. Moreover, an association was found between the subscale incompetence and symptoms of anxiety. Conclusions Parents whose children underwent surgery for craniosynostosis did not seem to experience higher levels of parental stress than Swedish parents in general. There were no differences in perceived parental stress and HRQoL before and one year after surgery, while the psychological distress was higher before. A positive association between parental stress and symptoms of depression was seen both before and after surgery.

Quantitative analysis of intracranial and intraorbital volume changes following craniosynostosis surgery: a retrospective imaging study

2025-06-14

Joel John , Subhas Konar , Dhaval Shukla +2 more | Child s Nervous System

Surface scanning and imaging in craniofacial surgery

2025-06-13

Estelle Viaud-Murat , Dhruv Patel , Sherard A. Tatum | Current Opinion in Otolaryngology & Head & Neck Surgery

Purpose of review This review describes recent innovations in craniofacial imaging, focusing on emerging techniques such as 3D photogrammetry, smartphone-based scanning, and artificial intelligence applied to cephalometric assessments in facial … Purpose of review This review describes recent innovations in craniofacial imaging, focusing on emerging techniques such as 3D photogrammetry, smartphone-based scanning, and artificial intelligence applied to cephalometric assessments in facial plastic and reconstructive surgery. Recent findings Traditional methods like occipitofrontal circumference and cephalic index remain widely used, but newer, more precise technologies have recently emerged. 3D photogrammetry is a reproducible, safe, and noninvasive alternative, offering detailed cranial modeling using external landmarks. The integration of smartphone technologies has further democratized craniofacial imaging by enabling accurate 3D scans with minimal cost and radiation exposure. Despite variability in certain facial regions, these technologies have shown promising accuracy for clinical use. Furthermore, AI-driven approaches enhance diagnostic precision by generating synthetic data and improving landmark detection in complex cranial morphologies. Summary Recent technological advances are reshaping craniofacial imaging and optimizing preoperative and postoperative care in facial plastic and reconstructive surgery. 3D imaging and AI applications offer significant improvements over traditional methods and allow for more precise and reliable methods for operative planning and longitudinal assessments. As these tools develop, they are bound to become the new standards for clinical evaluation of craniofacial anomalies.

Spontaneous Correction of Facial Torsion in Nonsyndromic Unicoronal Craniosynostosis: Does Time Heal All?

2025-06-13

Sebastian M.A. Brooke , Rachel Z.J. Zhang , Jonathan Burge | Journal of Craniofacial Surgery

Unicoronal synostosis creates facial asymmetry typified by torsion of the midface to the contralateral side. Whether the facial tort corrects spontaneously after frontal orbital advancement surgery remains debatable. The authors … Unicoronal synostosis creates facial asymmetry typified by torsion of the midface to the contralateral side. Whether the facial tort corrects spontaneously after frontal orbital advancement surgery remains debatable. The authors aimed to evaluate the degree of clinically evident spontaneous correction of facial torsion after bifrontal orbital advancement. The authors performed a retrospective review of nonsyndromic unicoronal craniosynostosis patients treated with frontal orbital advancement between 1994 and 2016 by evaluating preoperative and postoperative clinical photographs. Preoperative and postoperative facial torsion was serially measured on AP photographs by angulation of the nasal tip from the mid-sagittal plane. Facial torsion was classified as perceptible or not perceptible for qualitative review and angle measurements were recorded for quantification. Sixty-two patients were included. The mean age at surgery was 11 months with the mean follow-up of 57 months. Two hundred sixty-three photographs were reviewed. Mean nasal tip angulation was 6.2±2.1 degrees at the first review with a correction of 1.6±1.82 degrees observed at the final review. All patients had persistent perceptible facial torsion. A statistically significant correction of facial torsion by 1.6 degrees was present but did not lead to a perceptible improvement in facial torsion. The qualitative evaluation demonstrated that perceptible facial torsion was present in both short-term and long-term postoperative photographs in all cases. Although the severity of perceptible asymmetry was not quantified, a subjective degree of perceptible facial torsion preoperatively was unchanged in long-term follow-up despite statistically significant quantitative correction.

Treatment modalities in bone-borne maxillary protraction in children with maxillary retrognathism: a systematic review and meta-analysis

2025-06-12

Sarah Joda Kathem , Thomas Klit Pedersen | PubMed

Abstract Objectives The aim of the systematic review and meta-analysis is to compare the efficacy of 4 different bone-anchored maxillary protraction techniques: 1) bone-anchored maxillary elastics (BAMP), 2) maxillary bone … Abstract Objectives The aim of the systematic review and meta-analysis is to compare the efficacy of 4 different bone-anchored maxillary protraction techniques: 1) bone-anchored maxillary elastics (BAMP), 2) maxillary bone anchors combined with facemask (BAFM), 3) hybrid hyrax combined with facemask (HHFM) and 4) hybrid hyrax combined with mandibular bone anchors (HH-BAMP). Search methods The search was performed in four electronic databases: Pubmed, Embase, Scopus and Web of Science. In addition, the reference lists of eligible articles have been hand-searched. Selection criteria Study designs included: randomized controlled trials, non-randomized controlled trials, case-control studies including more than 4 patients. Data collection and analysis Qualitative and quantitative information were extracted for each study including author, year of publication, study type, sample size, chronological age of patient group pretreatment (years), skeletal maturity stage, gender (female/male), treatment duration (months), treatment type, type of skeletal anchorage, force magnitude (grams), duration of protraction (hours), RME or Alt-RAMEC and cephalometric measurements. Statistical heterogeneity was assessed by a stratified analysis for mean difference (MD) and a graphical display of the estimated treatment effects. A meta-analysis comparing treatment effects for the four groups were only made if two or more outcomes were reported. Results 653 articles were initially screened, 25 full-text articles satisfied the inclusion criteria including 6 randomized controlled trials. Comparing the four maxillary protraction protocols, SNA improved significantly more in group 4 compared to the other groups including group 1 (mean difference 1.9, 95% confidence interval [CI] 1.6-2.1; p &lt; 0.001). Treatment with facemask (group 2) seemed to increase the lingual inclination of the lower incisors (IMPA) while in the other groups, proclination of the lower incisors were evident. Conclusions The level of evidence in the selected articles ranged from low to moderate. The current evidence suggests that skeletally anchored rapid maxillary expansion combined with maxillary protraction with mandibular bone anchors yields the greatest maxillary advancement in cl.III patients. Registration The study has been registered at PROSPERO with registration number CRD42023380964.

Therapeutic efficacy of individual head orthoses in infants with positional plagiocephaly

2025-06-12

Sachin Chhatwani , Caterina Degener , Lucija Rako +4 more | Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie