Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.
Four boys with facial-digital-genital or Aarskog syndrome were whort with triangular faces, characteristic deformities of the hands and feet, and anomalies of the external genitalia. The syndrome appears to be inherited in an X-chromosomes-limked recessive manner. Previous reports emphasized the presence of hypertelorism but careful measurements of the interorbital dimensions revealed primary telecanthus in addition to hypertelorism. The palpebral fissures had a marked antimongoloid obliquity and in half the reported cases, there was unilateral or bilateral congenital blepharoptosis. Strabismus, hyperopic astigmatism, and large corneas may be additional features.
D000015:Abnormalities, Multiple / Q000503:physiopathology; D001763:Blepharoptosis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000150:complications / Q000601:surgery; D004200:Diseases in Twins; D005123:Eye / Q000503:physiopathology; D005128:Eye Diseases / Q000150:complications*; D005132:Eye Manifestations; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008297:Male; D013285:Strabismus / Q000150:complications; D013576:Syndactyly / Q000150:complications; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014792:Visual Acuity