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Conradi-Hünermann syndrome

Pronunciation: kon-rah'de hin'er-mahn

Definition: one of the syndromes of chondrodysplasia punctata (q.v.), autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present.

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