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  • Title: Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up.
    Author: Schimke RN, Claflin KS, Seguin JH, Bennett TL, Finley BE, Levitch LM, Newcomb WM.
    Journal: Am J Med Genet; 1991 Oct 01; 41(1):102-4. PubMed ID: 1951450.
    Abstract:
    Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis.
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