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肠道淋巴管扩张症、淋巴水肿、智力发育迟缓及典型面容:亨内坎综合征的确诊

Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.

作者信息

Gabrielli O, Catassi C, Carlucci A, Coppa G V, Giorgi P

机构信息

Department of Pediatrics, University of Ancona, Italy.

出版信息

Am J Med Genet. 1991 Aug 1;40(2):244-7. doi: 10.1002/ajmg.1320400223.

DOI:10.1002/ajmg.1320400223
PMID:1897580
Abstract

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

摘要

我们报告了一名患有肠道淋巴管扩张症、轻度智力障碍、癫痫发作且面容典型的男性;该综合征最初由亨内卡姆等人在《美国医学遗传学杂志》第34卷第593 - 600页(1989年)中描述。他的父母是近亲结婚。该病例似乎证实了亨内卡姆综合征的存在。

相似文献

1
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.肠道淋巴管扩张症、淋巴水肿、智力发育迟缓及典型面容:亨内坎综合征的确诊
Am J Med Genet. 1991 Aug 1;40(2):244-7. doi: 10.1002/ajmg.1320400223.
2
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.严重淋巴水肿、肠道淋巴管扩张症、癫痫发作和轻度智力障碍:1例具有严重表型的亨内坎综合征的进一步病例。
Am J Med Genet. 2002 Jul 22;111(1):68-70. doi: 10.1002/ajmg.10509.
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Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.常染色体隐性遗传性肠淋巴管扩张症和淋巴水肿,伴有面部异常和智力发育迟缓。
Am J Med Genet. 1989 Dec;34(4):593-600. doi: 10.1002/ajmg.1320340429.
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Craniosynostosis and kidney malformation in a case of Hennekam syndrome.1例亨内坎综合征患者的颅缝早闭和肾脏畸形
Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115.
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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.淋巴水肿-淋巴管扩张-智力发育迟缓(亨内坎)综合征:综述
Am J Med Genet. 2002 Nov 1;112(4):412-21. doi: 10.1002/ajmg.10707.
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Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.亨内坎综合征表型的扩展:一例具有新表现的病例
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Two brothers with Hennekam syndrome and cerebral abnormalities.
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Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.家族性先天性肺淋巴管扩张症、非免疫性胎儿水肿、面部及下肢淋巴水肿:Njolstad报告的证实
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Cutaneous manifestations and massive genital involvement in Hennekam syndrome.亨内坎综合征的皮肤表现及严重生殖器受累情况
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A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.因CCBE1基因突变纯合导致的亨内坎综合征多重家系,该突变不影响蛋白质表达。
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Hennekam lymphangiectasia syndrome.亨内坎淋巴管扩张综合征。
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