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rhizomelic dwarfism


Definition: one of the syndromes of chondrodysplasia punctata (q.v.), autosomal recessive, with variable skin keratinization disorders and variable facial, cardiac, optic, and central nervous system abnormalities; epiphysial stippling is also present. There are multiple enzymatic defects, including peroxisomal types, and affected infants fail to thrive and usually die in infancy.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.