Aalfs C M, Hennekam R C, Wanders R J, Jira P E, Pilon J W, Wijburg F A
Instituut voor Antropogenetica. afd. Klinische Genetica, Amsterdam.
Ned Tijdschr Geneeskd. 1996 Jul 13;140(28):1463-6.
In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of the second and third toes were observed. The presence of the Smith-Lemli-Opitz (SLO) syndrome was suspected. By gas chromatography a severely decreased plasma cholesterol level (0.27 mmol/l) was found and an increased plasma 7-dehydrocholesterol level (0.24 mmol/l). The SLO syndrome is caused by a block in the cholesterol biosynthesis due to the autosomal recessive deficiency of 7-dehydrocholesterol reductase. The patient's condition improved with use of a cholesterol-enriched diet.
在一名男性新生儿中，观察到发育不成熟、小头畸形、高鼻梁、长人中、宽牙嵴、软腭裂、下颌后缩、伴有索带的小阴茎、小阴囊、双侧腹股沟疝以及双侧第二和第三趾并指。怀疑存在史密斯-利姆利-奥皮茨（SLO）综合征。通过气相色谱法发现血浆胆固醇水平严重降低（0.27 mmol/L），血浆7-脱氢胆固醇水平升高（0.24 mmol/L）。SLO综合征是由于7-脱氢胆固醇还原酶常染色体隐性缺乏导致胆固醇生物合成受阻引起的。患者使用富含胆固醇的饮食后病情有所改善。
