1.
Pediatr Med Chir
; 8(4): 575-8, 1986.
Article
in Italian
| MEDLINE
| ID: mdl-3575135
ABSTRACT
Two children with the 49, XXXXY syndrome were described. The main symptoms were the cranio-facial abnormalities (for exp. upward slant to palpebral fissures), hypogonadism with a small penis, skeletal abnormalities (especially radioulnar synostosis) and severe mental deficiency. The diagnosis, suggested by the clinical picture, was confirmed by the karyotypic analysis.