[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)].
A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.
D001763:Blepharoptosis / Q000150:complications; D002648:Child; D005145:Face / Q000002:abnormalities*; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D012611:Scrotum / Q000002:abnormalities*; D013577:Syndrome
Sindrome di Aarskog (sindrome facio-digito-genitale). Studio di una famiglia.