Johnson V P
Z Kinderheilkd. 1975;119(4):221-34. doi: 10.1007/BF00443506.
This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.
本文报道了两名患有史密斯-勒米-奥皮茨综合征的兄弟姐妹,并对该主题的文献进行了综述。史密斯-勒米-奥皮茨综合征是一种具有多种先天性异常的综合征,伴有智力和生长发育迟缓、特殊面容、泌尿生殖系统以及手足异常,呈常染色体隐性遗传。