Title |
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation
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Published in |
PRS Global Open, July 2015
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DOI | 10.1097/gox.0000000000000369 |
Pubmed ID | |
Authors |
Bharesh K. Chauhan, Jacqueline M. Hoover, Hannah Scanga, Anagha Medsinge, Georgianne L. Arnold, Ken K. Nischal |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 10 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 2 | 20% |
Student > Ph. D. Student | 2 | 20% |
Professor | 1 | 10% |
Researcher | 1 | 10% |
Student > Postgraduate | 1 | 10% |
Other | 0 | 0% |
Unknown | 3 | 30% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 4 | 40% |
Neuroscience | 1 | 10% |
Unspecified | 1 | 10% |
Unknown | 4 | 40% |