Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Plast Reconstr Surg Glob Open
Prif Awduron: Chauhan, Bharesh K., Hoover, Jacqueline M., Scanga, Hannah, Medsinge, Anagha, Arnold, Georgianne L., Nischal, Ken K.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer Health 2015
Pynciau:
Case Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4494497/
https://ncbi.nlm.nih.gov/pubmed/26180728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GOX.0000000000000369
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