1例“3MC综合征”的表型分析并文献复习

Rani Roy Soma, Kader Md. Sazzad
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引用次数: 0

摘要

3MC综合征是一种非常罕见的疾病。它的流行程度尚不清楚,但大多数病例报告来自中东。首例病例于1978年报道,并命名为米歇尔综合征,最近与其他三种综合征一起被命名为3mc综合征。所有病例均为常染色体隐性遗传病,据报道均来自近亲和非近亲父母。在这里,我们从表型上分析了一个病例,该病例表现为睑下垂综合征合并颅缝闭锁,提示米歇尔综合征,这是“3mc综合征”的一部分。
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Phenotypic Analysis of A Case of ‘3MC Syndrome’ with Review of Literature
3MC syndrome is a very rare entity. It’s prevalence is unknown but most cases are reported from Middle East. First case was reported in 1978 and named as Michel syndrome and recently with other three syndromes together these syndromes are named as 3 MC syndrome. All are autosomal recessive disorder and reported from both consanguineous and non- consanguineous parents. Here we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Mischel syndrome which is a part of ‘3 MC syndrome’.
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