Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.
A mild to moderately affected mother with Nager acrofacial dysostosis produced a severely affected phocomelic son. This apparent autosomal dominant transmission and the extreme variability dictates a reassessment of the genetics of Nager acrofacial dysostosis.
Hall
B D
BD
Department of Pediatrics, University of Kentucky, Lexington 40536.
D000328:Adult; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans