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A premature infant with Costello syndrome due to a rare G13C HRAS mutation
Author(s) -
Piccione Maria,
Piro Ettore,
Pomponi Maria Grazia,
Matina Federico,
Pietrobono Roberta,
Candela Eva,
Gabriele Bruna,
Neri Giovanni,
Corsello Giovanni
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32674
Subject(s) - costello syndrome , hras , mutation , medicine , pediatrics , genetics , biology , gene , kras
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. © 2009 Wiley‐Liss, Inc.