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Autosomal recessive inheritance of Nager acrofacial dysostosis.
  1. J Chemke,
  2. B M Mogilner,
  3. I Ben-Itzhak,
  4. L Zurkowski,
  5. D Ophir
  1. Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.


    Nager 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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