Search results for " Costello syndrome"

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…