• J. Med. Genet. · Apr 1988

    Case Reports

    Autosomal recessive inheritance of Nager acrofacial dysostosis.

    • J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, and D Ophir.
    • Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
    • J. Med. Genet. 1988 Apr 1; 25 (4): 230-2.

    AbstractNager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.

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