Article

Case Report: Unusual pulmonary involvement in a patient with Costello syndrome

2023-12-29

Abstract excerpt

Costello syndrome (CS) is a rare disease with intellectual disability, characterized by failure to thrive, short stature, joint laxity, loose soft skin, and distinctive facial features. This disease is caused by heterozygous germline mutations in the HRAS proto-oncogene. Cardiac and neurological abnormalities are the most common. Cardiovascular manifestations include valvular pulmonary stenosis, arrhythmia and hyp...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e206ece3-eafd-5f0a-85c2-08e883219878
DOI: 10.12688/f1000research.141703.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Unusual pulmonary involvement in a patient with Costello syndromeDOI 10.12688/f1000research.141703.1Read

Respiratory system involvement in Costello syndrome.Semantic proximity Read

Childhood interstitial lung disease more prevalent in infancy: a practical review.Semantic proximity Read

Interstitial lung diseases in children.Semantic proximity Read

Costello syndrome and related disorders.Semantic proximity Read

A case of persistent pulmonary hypertension in a newborn with Costello syndrome.Semantic proximity Read

Update on Diffuse Lung Disease in Children.Semantic proximity Read

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.Semantic proximity Read

[Hyper-IgE syndrome in adulthood: a case report and literature review].Semantic proximity Read

Interstitial Lung Disease in Children Younger Than 2 Years.Semantic proximity Read

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experienceSemantic proximity Read

Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use.Semantic proximity Read

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.Semantic proximity Read