[Costello syndrome: clinical aspects and tumor risk].
Costello syndrome is a sporadic development anomaly suggesting a genetic determinism. Main features include characteristic facial features, mental retardation, growth retardation, cutis laxa, heart malformation, and peri-orificial papillomata. In previous reported cases, the frequency of tumors is 15%, which argues for a screening protocol. The occurrence of a tumor in a child with growth retardation and cutis laxa must be reminiscent of Costello syndrome. The determinism of this syndrome is still unknown, and the hypothesis of an inactivation of a tumor suppressor gene is to be considered.
Delrue
M A
MA
Service de génétique médicale, CHU Pellegrin-Enfants, Place Amélie-Raba-Léon, 33076 Bordeaux, France. didier.lacombe@chu-bordeaux.fr
Arveiler
B
B
Lacombe
D
D
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D016147:Genes, Tumor Suppressor; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D009369:Neoplasms / Q000209:etiology*; D010641:Phenotype