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leprechaunism

Pronunciation: lep're-kawn-izm

Definition: A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears; autosomal recessive inheritance; caused by mutation in the insulin receptor gene (INSR) on 19p.

Synonym(s): Donohue disease, Donohue syndrome

[Irish leprechaun, elf]

Further information

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

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