Autosomal recessive inheritance of Nager acrofacial dysostosis.
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.
Chemke
J
J
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
Mogilner
B M
BM
Ben-Itzhak
I
I
Zurkowski
L
L
Ophir
D
D
D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D013577:Syndrome