Chondrodysplasia punctata: case report and literature review of patients with heart lesions.
Chondrodysplasia punctata (CP) is sometimes accompanied by heart lesions, but the literature is not specific or consistent regarding the incidence or types of cardiac anomalies. A patient with the mild Conradi-Hünermann type of CP is peripheral pulmonary arterial stenoses. A review of the literature brought to light a total of 23 patients with congenital heart lesions that were mainly found among cases of Conradi-Hünermann type and autosomal recessively inherited CP.
Department of Pediatrics, University of Pretoria, South Africa.
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Fourie
D000792:Angiography; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003251:Constriction, Pathologic / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D011651:Pulmonary Artery / Q000002:abnormalities*