Donohue Syndrome (Leprechaunism) &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; &nb 939e44j sp; 380
General: Etiology unknown; possibly autosomal recessive; prevalent in females; present at birth; possible correlation between Donohue syndrome and insulin receptor gene defects.
Ocular: Hypertelorism.
Clinical: Failure to thrive; mental retardation; sexual precocity; hirsutism; broad nose; hypertrophic nipples; hypertrophy of external genitals; intrauterine growth retardation; extreme insulin resistance hyperkeratosis; precocious tooth eruption.
Donohue WL, et al. Dysendocrinism. J Pediatr 1948; 32:739-748.
Goodman PA, et al. Growth factor receptor regulation in the Minnl leprechaun: defects in both insulin receptor and epidermal growth factor receptor gene expression. Metab Clin Exp 1992; 41:504-509.
Krook A, et al. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 1993; 342:277-278.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
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