A premature infant with Costello syndrome due to a rare G13C HRAS mutation

Giovanni Corsello, Ettore Piro, Maria Piccione, Maria Grazia Pomponi, Giovanni Neri, Roberta Pietrobono, Federico Matina

Risultato della ricerca: Articlepeer review

13 Citazioni (Scopus)

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.
Lingua originaleItalian
pagine (da-a)487-489
Numero di pagine3
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume149A
Stato di pubblicazionePublished - 2009

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.2700.2716???

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