Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation
Bharesh K Chauhan1, Jacqueline M Hoover1, Hannah Scanga1
1UPMC 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.
Abstract:
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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