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Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)
Ist Teil von
La Pediatria medica e chirurgica, 1981-07, Vol.3 (4), p.323
Ort / Verlag
Italy
Erscheinungsjahr
1981
Quelle
MEDLINE
Beschreibungen/Notizen
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.