Leprechaunism (Donohue's syndrome): a case report.
Features of leprechaunism, including low-birth weight, a grotesque elfin face with clubbed nose, hirsutism, large low-set ears, enlarge external genitalia, distended abdomen with emaciated extremities, and growth and motor retardation were present in a 3-month-old girl. Because of parental consanguinity in this patient, a recessive mode of inheritance seems likely.
Tokatli
A
A
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Ozsoylu
S
S
Ozme
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D007223:Infant; D001523:Mental Disorders / Q000235:genetics*; D013577:Syndrome