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  • Title: A distinct autosomal dominant craniosynostosis-brachydactyly syndrome.
    Author: Glass IA, Chapman S, Hockley AD.
    Journal: Clin Dysmorphol; 1994 Jul; 3(3):215-23. PubMed ID: 7981856.
    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.
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