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Ann Card Anaesth ; 26(3): 346-348, 2023.
Article in English | MEDLINE | ID: mdl-37470539

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.


Subject(s)
Anesthetics , Ellis-Van Creveld Syndrome , Heart Defects, Congenital , Polydactyly , Female , Humans , Adolescent , Ellis-Van Creveld Syndrome/complications , Ellis-Van Creveld Syndrome/diagnostic imaging , Ellis-Van Creveld Syndrome/surgery , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/surgery
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