Tokatli A, Ozsoylu S, Ozme S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Turk J Pediatr. 1993 Oct-Dec;35(4):319-22.
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.
一名3个月大的女孩出现了妖精貌综合征的特征,包括低出生体重、长着球状鼻的怪异小精灵面容、多毛症、低位大耳、外生殖器增大、腹部膨隆伴四肢消瘦以及生长和运动发育迟缓。由于该患者父母近亲结婚,因此似乎很可能是隐性遗传模式。