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Am J Med Genet. 1999 Sep 10;86(2):174-9.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

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  • 1Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Universit√† di Torino, Italy.


We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

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