Gepubliceerd in:
01-02-2013
Rhizomelic Chondrodysplasia Punctata and cardiac pathology
Auteurs:
Irene C. Huffnagel, Sally-Ann B. Clur, Annemieke M. Bams-Mengerink, Nico Blom, Bwee Tien Poll-The
Gepubliceerd in:
Tijdschrift voor Kindergeneeskunde
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bijlage 1/2013
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Extract
Rhizomelic Chondrodysplasia Punctata (RCDP) is an autosomal recessive peroxisomal disorder. Patients present with symmetrical rhizomelia, contractures, congenital cataracts, facial dysmorphia and severe mental and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular membranes) are low in erythrocytes due to a biosynthesis deficiency. Cardiac muscle contains high concentrations of plasmalogens, but in RCDP mice they were undetectable and cardiac function was reduced, suggesting their importance in normal cardiac development and function. Congenital heart defects (CHDs), however, are not recognized as a major characteristic of RCDP patients.We aimed to determine the prevalence of CHD among patients with RCDP. …