The Aarskog syndrome.
The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome