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[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)].

Authors :
Scarano G
Rinaldi MM
Cavaliere ML
Esposito M
Sicolo A
Santulli B
Stabile M
Fasano R
Ventruto V
Source :
La Pediatria medica e chirurgica : Medical and surgical pediatrics [Pediatr Med Chir] 1981 Jul-Aug; Vol. 3 (4), pp. 323-5.
Publication Year :
1981

Abstract

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.

Details

Language :
Italian
ISSN :
0391-5387
Volume :
3
Issue :
4
Database :
MEDLINE
Journal :
La Pediatria medica e chirurgica : Medical and surgical pediatrics
Publication Type :
Academic Journal
Accession number :
7343926