Search results for "Costello syndrome"
showing 3 items of 3 documents
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Precocious puberty in Costello syndrome: case report.
2012
Background: Costello syndrome(CS) is a rare autosomal dominant genetically transmitted disease, with: macrocephaly, coarse face with hypertelorism, epicanthal folds, prominent eyes, short nose, low-set ears, large mouth, short stature and failure to thrive, curly hairs, macro glossy, short neck, hyperkeratosis, hyperpigmentation, papillomata around the anus, mouth and nares, thick and loose skin of the hands and feet, cardiomyopathy, mental retardation, increased neoplastic risk. The majority of patients (80-90%) with CS have de novo heterozygous mutations in the HRAS gene (11p15.5). Sporadic cases with GH deficiency are described, even if GH treatment is non clearly associated to a signifi…
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
2009
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.