Craniosynostosis Syndromes

Brookes, Carolyn Dicus; Golden, Brent A.; Turvey, Timothy A.

doi:10.1016/j.cxom.2014.04.001

Cited by 13 publications

(15 citation statements)

References 53 publications

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“…The Fgfr3 P244R /+ Muenke syndrome mouse model carries the murine equivalent of the human Muenke syndrome mutation ( FGFR3 P250R) and has been informative in the study of craniofacial variation and the physiological mechanisms underlying hearing loss in patients with this syndrome . Some human individuals with Muenke syndrome have phenotypic features that are not clearly distinguishable from other craniosynostosis syndromes including craniofacial dysmorphology, abnormalities visible on hand and foot radiographs, brachydactyly, and sensorineural hearing loss . Others have few or no anomalies other than coronal craniosynostosis, and still others have only macrocephaly or normal head shape .…”

Section: Beyond Sutures: Craniofacial Dysmorphogenesis In Mouse Modelmentioning

confidence: 99%

Understanding craniosynostosis as a growth disorder

Flaherty

Singh

Richtsmeier

2016

WIREs Developmental Biology

103

125

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Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard tissues of the head. Steady progress in the field has resulted in identifying gene mutations that recurrently cause craniosynostosis. There are now scores of mutations on many genes causally related to craniosynostosis syndromes, though the genetic basis for the majority of nonsyndromic cases is unknown. Identification of these genetic mutations has allowed significant progress in understanding the intrinsic properties of cranial sutures, including mechanisms responsible for normal suture patency and for pathogenesis of premature suture closure. An understanding of morphogenesis of cranial vault sutures is critical to understanding the pathophysiology of craniosynostosis conditions, but the field is now poised to recognize the repeated changes in additional skeletal and soft tissues of the head that typically accompany premature suture closure. We review the research that has brought an understanding of premature suture closure within our reach. We then enumerate the less well-studied, but equally challenging, non-sutural phenotypes of craniosynostosis conditions that are well-characterized in available mouse models. We consider craniosynostosis as a complex growth disorder of multiple tissues of the developing head, whose growth is also targeted by identified mutations in ways that are poorly understood. Knowledge gained from studies of humans and mouse models for these conditions underscores the diverse, associated developmental anomalies of the head that contribute to the complex phenotypes of craniosynostosis conditions presenting novel challenges for future research.

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Section: Beyond Sutures: Craniofacial Dysmorphogenesis In Mouse Modelmentioning

confidence: 99%

Understanding craniosynostosis as a growth disorder

Flaherty

Singh

Richtsmeier

2016

WIREs Developmental Biology

103

125

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“…Crouzon syndrome (CS) affects 1.6 in 100,000 births per year and represents up to 4.8% of those born with craniosynostosis. 1 , 2 Most are diagnosed, treated, and followed through early childhood. CS is associated with synostosis of coronal sutures and facial features including exophthalmos, severe midface hypoplasia, and hypertelorism.…”

Section: Introductionmentioning

confidence: 99%

An Unoperated Crouzon Family Treated with Monobloc Distraction: Challenges and Lessons

Hart

Gasteratos

et al. 2021

Plastic and Reconstructive Surgery - Global Open

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Background: Crouzon syndrome (CS) is a rare form of craniosynostosis characterized by bicoronal craniosynostosis and facial features including severe midface hypoplasia, exophthalmos, and hypertelorism. Most patients are diagnosed and treated in early childhood; however, there are a few reports of Crouzon patients treated as adults with monobloc facial advancement. To our knowledge, this is the first report of a family affected by CS treated sequentially with monobloc facial advancement using combined internal and external distraction osteogenesis (rigid external distraction). Methods: We present a family from Jamaica (mother 47 years old, older daughter 17, and younger daughter 9) who were brought to our craniofacial clinic with stigmata of CS and no previous surgical intervention. Patients had bicoronal craniosynostosis and exorbitism, with varying severity, sequelae, and comorbidities. Here, we delineate our technique of monobloc distraction osteogenesis with advancement osteotomies using dual “push–pull” method, elevation of a split anteriorly based tunneled pericranial flap to seal off nasal cavity, and internal and external distraction. Results: Our patients had favorable outcomes after reconstruction to reduce ocular symptoms and improve midface hypoplasia and aesthetic appearance. No intracranial injury, hardware/soft-tissue infection, hardware failure, or (new) loss of vision were encountered in 10 months follow-up. Conclusions: Dual “push–pull” monobloc distraction is safe and effective for a range of ages in CS; it allows good vector control, accommodates patient compliance, and allows early rigid external distraction device removal with sufficient time for consolidation. This surgery can be performed with highly satisfactory results.

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“…Craniosynostosis is a group of connective disorders that primarily presents with premature fusion of cranial sutures, and has a birth prevalence of 1 in 2,000–3,000 live births ( 1 , 2 ). Many syndromes associated with craniosynostosis have been studied, the majority of which exhibit dominant inheritance ( 3 ).…”

Section: Introductionmentioning

confidence: 99%

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients

Gao¹,

Ai²,

Eswarakumar³

et al. 2017

Molecular Medicine Reports

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The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their associated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extracted from leukocytes of peripheral blood collected from these two families and from 200 unrelated subjects within the same population as controls. Exons 8 and 10 of the FGFR2 gene were amplified by polymerase chain reaction and directly sequenced. Ophthalmic examinations of the two patients revealed shallow orbits and ocular proptosis, accompanied by midface hypoplasia and craniosynostosis. Case 1 had retinal detachment, abnormal limbs and hands, while case 2 exhibited normal hands and feet upon clinical examination. A heterozygous FGFR2 missense mutation c.833G>T (C278F) in exon 8 was identified in these two patients, but not in unaffected family members or the normal controls. Although FGFR2 gene mutations and polymorphisms have been studied in various ethnic groups, we report a mutation of FGFR2 in two different Chinese patients with two different types of syndromic craniosynostosis.

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Craniosynostosis Syndromes

Cited by 13 publications

References 53 publications

Understanding craniosynostosis as a growth disorder

Understanding craniosynostosis as a growth disorder

An Unoperated Crouzon Family Treated with Monobloc Distraction: Challenges and Lessons

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients

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