A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
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.
Piccione
Maria
M
U.O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy. piccionemaria@libero.it
Piro
Ettore
E
Pomponi
Maria Grazia
MG
Matina
Federico
F
Pietrobono
Roberta
R
Candela
Eva
E
Gabriele
Bruna
B
Neri
Giovanni
G
Corsello
Giovanni
G
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
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D004247:DNA