Frediani T, Lucarelli S, Bruni L
Department of Pediatrics, University of Rome La Sapienza, Rome, Italy.
Minerva Pediatr. 2001 Feb;53(1):43-8.
The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.
丹川-黑木(歌舞伎妆容)综合征是一种可识别的畸形模式,包括智力迟钝、颅面部畸形特征、骨骼和关节异常、出生后生长发育迟缓以及易感染。本文介绍了两名分别为8岁和5岁的男性同胞,他们表现出该综合征的典型临床和放射学表现,以及他们的父亲,其仅表现出部分面部特征。