We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a ''coarse'' face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wartlike lesions of the skin. The previously reported patient
Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review
β Scribed by Franceschini, P.; Licata, D.; Di Cara, G.; Guala, A.; Bianchi, M.; Ingrosso, G.; Franceschini, D.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 56 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990910)86:2<174::aid-ajmg17>3.0.co;2-y
No coin nor oath required. For personal study only.
β¦ Synopsis
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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