Happle R, Koch H, Lenz W
Eur J Pediatr. 1980 Jun;134(1):27-33. doi: 10.1007/BF00442399.
The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of some fingers to complete absence of an extremity. In addition, ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera are found. In some cases, ipsilateral punctate epiphyseal calcifications have been observed. Two further cases of this syndrome are reported, and a review of 18 previous observations is presented. The ratio of females to males is 19 : 1. Apparently, the CHILD syndrome is genetically determined. Arguments are presented in favor of the hypothesis that the conditions is due to an X-linked dominant gene lethal in hemizygous males.
“CHILD综合征”这一术语是先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷的首字母缩写词。该综合征的特征为单侧红斑和鳞屑，在躯干中部有明显界限。皮肤病损在出生时即存在或在出生后的头几周内出现。同侧肢体缺陷范围从某些手指发育不全到整个肢体完全缺失不等。此外，还发现同侧骨骼其他部位发育不全以及脑和内脏缺陷。在某些病例中观察到同侧点状骨骺钙化。本文报告了该综合征的另外两例病例，并对之前18例观察结果进行了综述。女性与男性的比例为19∶1。显然，CHILD综合征是由基因决定 的。文中提出了支持该病症由X连锁显性基因导致半合子男性致死这一假说 的论据。
