PMID: 3575135Jul 1, 1986Paper

49 XXXXY syndrome. Description of 2 clinical cases

La Pediatria medica e chirurgica : Medical and surgical pediatrics
A VerottiG Palka


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.

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