Abstract Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder
comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor …

While the majority of individuals with Costello syndrome share characteristic findings
affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or …

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS.
Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and …

Cardiovascular abnormalities are important features of Costello syndrome and other
Ras/MAPK pathway syndromes (“RASopathies”). We conducted clinical, pathological and …

Costello syndrome is a rasopathy caused by germline mutations in the proto‐oncogene
HRAS. Its presentation includes failure‐to‐thrive with macrocephaly, characteristic facial …

Here, we describe neurobehavioral features in patients with RASopathies (ie, Noonan
syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome) …

We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40
years. Two patients in this series have had bladder carcinoma, the only malignancy reported …

Costello syndrome is a rare congenital disorder typically characterized by severe failure‐to‐
thrive, cardiac abnormalities including tachyarrhythmia and hypertrophic cardiomyopathy …

CHD is frequently associated with a genetic syndrome. These syndromes often present
specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri …

Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations),
which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal …