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

Plast Reconstr Surg Glob Open 2015 Jun 8;3(6):e427. Epub 2015 Jul 8.

UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, Pa.; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pa.; and Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.

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 diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

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http://dx.doi.org/10.1097/GOX.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494497PMC
June 2015
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