Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.
Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.
D002972:Cleft Palate; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008342:Mandibulofacial Dysostosis / Q000145:classification / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome