leprechaunism

(redirected from Donohue disease)
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leprechaunism

 [lep´rĕ-kon″izm]
a lethal familial congenital condition in which the infant is small and has an elfin face and severe endocrine disorders, such as enlargement of the clitoris in a female or of the penis in a male.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

lep·re·chaun·ism

(lep'rĕ-kawn-izm), [MIM*246200]
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.
[Irish leprechaun, elf]
Farlex Partner Medical Dictionary © Farlex 2012

leprechaunism

(lĕp′rĭ-kŏn′ĭz′əm)
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
An autosomal recessive [MIM 246200] polydysmorphic condition with parental consanguinity, which is more common in females—the male foetuses die in utero
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

leprechaunism

Donohue syndrome, Donohue-Uchida syndrome, dysendocrinism
An AR polydysmorphic complex with parental consanguinity, which is more common in ♀–↑ ♂ fetal wastage in utero and characterized by a coarse gnome-like face with a saddle nose, broad mouth, large, low-set ears, hirsutism, cutis laxa, atrophy of subcutaneous fat, dwarfism, extreme wasting, mental retardation, dysphagia, enlarged nipples, breasts, clitoris, penis, kidneys, pancreatic islets and ovaries–with premature follicular maturation, hepatic nodules, insulin receptor dysfunction, early death. Cf Williams syndrome.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

lep·re·chaun·ism

(lep'rĕ-kawn-izm)
Congenital dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears.
[Irish leprechaun, elf]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

leprechaun,

Irish mythological figure, usually depicted as dwarflike and somewhat distorted.
leprechaunism - congenital condition characterized by insulin resistance and growth retardation.
Medical Eponyms © Farlex 2012