Autosomal recessive inheritance of Nager acrofacial dysostosis

J. Chemke, B. M. Mogilner, I. Ben-Itzhak, L. Zurkowski, D. Ophir

Research output: Contribution to journalArticlepeer-review

Abstract

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, 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.

Original languageEnglish
Pages (from-to)230-232
Number of pages3
JournalJournal of Medical Genetics
Volume25
Issue number4
DOIs
StatePublished - 1988
Externally publishedYes

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