In:
Annals of Cardiac Anaesthesia, Medknow, Vol. 26, No. 3 ( 2023), p. 346-348
Abstract:
Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period.
Type of Medium:
Online Resource
ISSN:
0971-9784
,
0974-5181
DOI:
10.4103/aca.aca_166_22
Language:
English
Publisher:
Medknow
Publication Date:
2023
detail.hit.zdb_id:
2106866-5
Permalink