Familial Saethre-Chotzen syndrome with or without polydactyly of the toe.
A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented. Saethre-Chotzen syndrome with polydactyly of the great toes has been reported as Robinow-Sorauf syndrome. Both syndromes were observed in this family. This suggests that Saethre-Chotzen syndrome and Robinow-Sorauf syndrome fall within the same clinical spectrum, and the cause is a pleiotropic effect, which is variously expressed.
Shidayama
R
R
Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Japan.
Hirano
A
A
Iio
Y
Y
Fujii
T
T
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*