罗宾诺综合征
Robinow syndrome.
作者信息
Patton M A, Afzal A R
机构信息
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK.
出版信息
J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305.
Abstract
In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.
摘要
1969年，罗比诺及其同事描述了一种包括中肢短缩、半椎体、生殖器发育不全和“胎儿面容”的综合征。目前已报告了100多例病例，我们回顾了该综合征临床和遗传特征的现有知识。常染色体隐性形式的基因被确定为9号染色体q22上的ROR2基因。ROR2是一种受体酪氨酸激酶，在小鼠和其他物种中有同源物。已证明同一基因ROR2会导致常染色体显性短指B型，但目前尚不清楚罗比诺综合征的常染色体显性形式是否也由ROR2突变引起。
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