Autosomal dominant transmission of acrodysostosis.
A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
Steiner
R D
RD
University of Washington School of Medicine, Seattle 98195.
Pagon
R A
RA
D000328:Adult; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D011859:Radiography