title: A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
abstract: Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.
authors.affiliation: U.O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy. piccionemaria@libero.it
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Ettore
authors.initials: E
authors.lastname: Piro
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Pomponi
authors.forename: Federico
authors.initials: F
authors.lastname: Matina
authors.forename: Roberta
authors.initials: R
authors.lastname: Pietrobono
authors.forename: Eva
authors.initials: E
authors.lastname: Candela
authors.forename: Bruna
authors.initials: B
authors.lastname: Gabriele
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D011905:Genes, ras; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D000090063:Proto-Oncogene Mas; D013577:Syndrome
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D004247:DNA