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

P Franceschini; D Licata; G Di Cara; A Guala; M Bianchi; G Ingrosso; D Franceschini

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

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

Authors

P Franceschini¹, D Licata, G Di Cara, A Guala, M Bianchi, G Ingrosso, D Franceschini

Affiliation

¹ Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Italy.

PMID: 10449656

Abstract

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.

Publication types

Review

MeSH terms

Adolescent
Child
Child, Preschool
Consanguinity
Family Health
Female
Growth Disorders / complications
Growth Disorders / genetics
Growth Disorders / pathology*
Humans
Infant
Infant, Newborn
Intellectual Disability / complications
Intellectual Disability / genetics
Intellectual Disability / pathology*
Male
Papilloma / complications
Papilloma / genetics
Papilloma / pathology
Paranasal Sinus Neoplasms / complications
Paranasal Sinus Neoplasms / genetics
Paranasal Sinus Neoplasms / pathology
Urinary Bladder Neoplasms / complications
Urinary Bladder Neoplasms / pathology*