Knape Robert M, Gandhi Kunjal B, Tuli Sanjeev Y, Khuddus Nausheen
Department of Ophthalmology, University of Florida College of Medicine, Gainesville, Florida, USA.
J Pediatr Ophthalmol Strabismus. 2010 Sep 22;47 Online:e1-3. doi: 10.3928/01913913-20100920-06.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.
先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷(CHILD)综合征是一种罕见的疾病,其特征为包括皮肤、内脏、肌肉骨骼系统和中枢神经系统在内的多个器官系统出现出生缺陷。作者报告了首例患有进行性双侧视神经萎缩的CHILD综合征患者出现眼部表现的病例。