Report of a case and further delineation of the SHORT syndrome.
We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics*; D008297:Male; D013064:Speech Disorders / Q000235:genetics*; D013577:Syndrome