Bang Genie M, Kirmani Salman, Patton Alice, Pulido Jose S, Brodsky Michael C
Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.
J AAPOS. 2013 Feb;17(1):100-2. doi: 10.1016/j.jaapos.2012.09.007. Epub 2013 Jan 18.
Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye.
原发性侏儒症是指胎儿期早期就开始出现的严重生长发育障碍。原发性侏儒症有多种遗传病因，包括被归类为小头畸形骨发育异常原发性侏儒症的疾病。II型小头畸形骨发育异常原发性侏儒症是一种常染色体隐性疾病，其特征为身材矮小、骨骼和牙齿异常以及特征性面容。受影响的患者因进行性脑血管异常继发中风的风险很高，这些异常通常被归类为烟雾病。我们报告了一例具有II型小头畸形骨发育异常原发性侏儒症特征的男孩病例，其存在单侧烟雾病脑血管改变以及同侧眼睛虹膜相关的烟雾病侧支循环。
