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acromesomelic dwarfism


Definition: a form of short-limb dwarfism characterized by pug nose and shortening of the upper and lower extremities; particularly striking in the distal portion of these extremities (forearm, fingers of upper extremity and the lower leg and toes of the lower extremity). Autosomal recessive inheritance.

Synonym(s): acromelia, acromelic dwarfism, acromesomelia

Further information

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