Gepubliceerd in:

01-02-2013

The neurology of rhizomelic chondrodysplasia punctata

Auteurs: Annemieke M. Bams-Mengerink, Hans H.T.M. Koelman, Hans Waterham, Peter G. Barth, Bwee-Tien Poll-The

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

The peroxisomal disorder Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by severe psychomotor delay, somatic growth impairment, congenital cataracts and skeletal abnormalities including rhizomelia. The severity of the disorder is related to the residual capacity to produce plasmalogens. We aimed to describe the neurological profiles of RCDP patients, with emphasis on epilepsy and neurophysiological data. …

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