title: Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.
abstract: We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology.
authors.affiliation: Division of Medical Genetics, Children's Hospital Oakland, California, USA.
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
authors.forename: M
authors.initials: M
authors.lastname: Golabi
authors.forename: M E
authors.initials: ME
authors.lastname: Norton
authors.forename: R M
authors.initials: RM
authors.lastname: Rosenblatt
authors.forename: G M
authors.initials: GM
authors.lastname: Feldman
authors.forename: S P
authors.initials: SP
authors.lastname: Yang
authors.forename: B D
authors.initials: BD
authors.lastname: Hall
authors.forename: M H
authors.initials: MH
authors.lastname: Fries
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D000052:Acanthosis Nigricans / Q000473:pathology / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology / Q000503:physiopathology; D002312:Cardiomyopathy, Hypertrophic / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D019066:Facies; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008659:Metabolic Diseases / Q000473:pathology / Q000503:physiopathology; D009030:Mosaicism / Q000235:genetics; D009669:Nose Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010212:Papilloma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010290:Parents; D010641:Phenotype; D013577:Syndrome
chemical_list: D005947:Glucose