Autosomal recessive inheritance of Nager acrofacial dysostosis.
- 1 April 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (4) , 230-232
- https://doi.org/10.1136/jmg.25.4.230
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.This publication has 11 references indexed in Scilit:
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