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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Detalles Bibliográficos
Autores principales: Chauhan, Bharesh K., Hoover, Jacqueline M., Scanga, Hannah, Medsinge, Anagha, Arnold, Georgianne L., Nischal, Ken K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494497/
https://www.ncbi.nlm.nih.gov/pubmed/26180728
http://dx.doi.org/10.1097/GOX.0000000000000369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494497/
https://www.ncbi.nlm.nih.gov/pubmed/26180728
http://dx.doi.org/10.1097/GOX.0000000000000369

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