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Hunter-Thompson dwarfism

Pronunciation: hun'ter tom'son

Definition: a severe form of acromesomelic dwarfism, characterized by shortening of the distal segments of the limbs; lower extremities are more severely affected than the upper limbs; often associated with dislocations of elbows, knees, and hips. Autosomal recessive inheritance, caused by mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene on chromosome 20q.

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

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