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A distinct autosomal dominant craniosynostosis-brachydactyly syndrome
I A Glass1, S Chapman, A D Hockley
1Genetics Unit, Birmingham Maternity Hospital, UK.
Clinical Dysmorphology
|July 1, 1994
Abstract:
We report a family with an autosomal dominantly inherited craniosynostosis. Five affected individuals have been identified with a variable clinical picture of premature coronal sutural synostosis accompanied by a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly. This pedigree appears to represent a distinct craniosynostosis entity.