Autosomal recessive inheritance of Nager acrofacial dysostosis

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.