Article Text

PDF

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.

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.