The Aarskog syndrome.
In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D012737:Sex Factors; D013577:Syndrome