PT  - JOURNAL ARTICLE
AU  - Chemke, J
AU  - Mogilner, B M
AU  - Ben-Itzhak, I
AU  - Zurkowski, L
AU  - Ophir, D
TI  - Autosomal recessive inheritance of Nager acrofacial dysostosis.
AID  - 10.1136/jmg.25.4.230
DP  - 1988 Apr 01
TA  - Journal of Medical Genetics
PG  - 230--232
VI  - 25
IP  - 4
4099  - http://jmg.bmj.com/content/25/4/230.short
4100  - http://jmg.bmj.com/content/25/4/230.full
SO  - J Med Genet1988 Apr 01; 25
AB  - 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.