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.
Franceschini
P
P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Italy.
Licata
D
D
Di Cara
G
G
Guala
A
A
Bianchi
M
M
Ingrosso
G
G
Franceschini
D
D
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*