| 释义 |
DictionarySeeleprechaunismDonohue syndrome
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. Synonym(s): Donohue disease, Donohue syndrome [Irish leprechaun, elf] Donohue syndrome (dŏn′ə-hyo͞o′)n. A rare genetic disorder caused by severe insulin resistance and characterized by acanthosis nigricans, emaciation, endocrine disorders, hirsutism, and facial features dominated by large wide-set eyes and large low-set ears.An autosomal recessive [MIM 246200] polydysmorphic condition with parental consanguinity, which is more common in females—the male foetuses die in uteroDonohue, William Leslie, Canadian pathologist, 1906-1985. Donohue disease - a congenital form of dwarfism. Synonym(s): Donohue syndrome; leprechaunismDonohue syndrome - Synonym(s): Donohue disease |