RT Journal Article
SR Electronic
T1 Autosomal recessive inheritance of Nager acrofacial dysostosis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 230
OP 232
DO 10.1136/jmg.25.4.230
VO 25
IS 4
A1 Chemke, J
A1 Mogilner, B M
A1 Ben-Itzhak, I
A1 Zurkowski, L
A1 Ophir, D
YR 1988
UL http://jmg.bmj.com/content/25/4/230.abstract
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.