title: Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.
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.
authors.affiliation: Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: D
authors.initials: D
authors.lastname: Licata
authors.forename: G
authors.initials: G
authors.lastname: Di Cara
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: M
authors.initials: M
authors.lastname: Bianchi
authors.forename: G
authors.initials: G
authors.lastname: Ingrosso
authors.forename: D
authors.initials: D
authors.lastname: Franceschini
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics / Q000473:pathology*; D008297:Male; D010212:Papilloma / Q000150:complications / Q000235:genetics / Q000473:pathology; D010255:Paranasal Sinus Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D001749:Urinary Bladder Neoplasms / Q000150:complications / Q000473:pathology*