Cherstvoy E D, Lazjuk G I, Ostrovskaya T I, Shved I A, Kravtzova G I, Lurie I W, Gerasimovich A I
Virchows Arch A Pathol Anat Histopathol. 1984;404(4):413-25. doi: 10.1007/BF00695225.
An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.
本文对33例尸检确诊的史密斯-勒米-奥皮茨综合征病例（包括我们实际诊断的8例）进行了分析。死亡的史密斯-勒米-奥皮茨综合征患儿中，51%（17/33）存在多指畸形，该比例在这组患儿中显著高于整个史密斯-勒米-奥皮茨综合征群体（20%-22%）。肾脏、大脑、肺部和胰腺异常类型存在某些形态学差异，表明存在两种表型相似的史密斯-勒米-奥皮茨综合征：1）伴有多指畸形；2）不伴有多指畸形。本文所呈现的数据揭示了史密斯-勒米-奥皮茨综合征的异质性。
