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

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. Am. J. Med. Genet. 86:174–179, 1999. © 1999 Wiley-Liss, Inc.