SMITH-LEMLI-OPITZ综合症

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI:10.1002/9780470893159.CH49

C. Cunniff

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摘要

Smith-Lemli-Opitz综合征的主要特征是产前生长缺陷、小头畸形、发育迟缓、特征性面部特征、腭裂、心脏缺陷、尿道下裂、多指畸形和2-3趾并指畸形。几乎所有受影响的人都有发育迟缓或智力迟钝。面部特征为双额径狭窄，上睑下垂，睑裂下斜，鼻短，鼻梁凹陷，鼻前倾。下颌后突很常见。这是一种常染色体隐性性状，具有广泛的表达变化。它是由缺乏酶7-脱氢胆固醇还原酶引起的，酶7-脱氢胆固醇还原酶是胆固醇生物生成途径的最后一步。最低发病率为6万分之一，携带频率为122分之一。关键词:Smith-Lemli-Opitz综合征;RSH综合症;7-dehydrocholesterol还原酶;生长迟缓;头小畸型;发育迟缓;面部特征;腭裂;尿道下裂;多指趾畸形;2-3趾并指

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SMITH–LEMLI–OPITZ SYNDROME

The cardinal features of Smith-Lemli-Opitz syndrome areprenatal growth deficiency, microcephaly, developmental delay, characteristic facial features, cleft palate, cardiac defects, hypospadias, polydactyly, and 2–3 toe syndactyly. Almost all affected individuals have developmental delay or mental retardation. The facial appearance is characterized by narrow bifrontal diameter, ptosis, down-slanting palpebral fissures, and a short nose with a depressed nasal bridge and anteverted nares. Retrognathia is common. This is an autosomal-recessive trait with widely variable expression. It is caused by deficiency of the enzyme 7-dehydrocholesterol reductase, the final step of the cholesterol biogenesis pathway. The minimum incidence is 1 in 60,000 giving a carrier frequency of 1 in 122. Keywords: Smith-Lemli-Opitz syndrome; RSH syndrome; 7-dehydrocholesterol reductase; growth retardation; microcephaly; developmental delay; characteristic facial features; cleft palate; hypospadias; polydactyly; 2–3 toe syndactyly

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Cassidy and Allanson's Management of Genetic Syndromes

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