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梅热氏病(家族性早发性淋巴水肿)与腭裂:一家系报告及文献复习

Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.

作者信息

Figueroa A A, Pruzansky S, Rollnick B R

出版信息

Cleft Palate J. 1983 Apr;20(2):151-7.

PMID:6342849
Abstract

This is a report of a family with lymphedema praecox and cleft palate. The mother had only lymphedema of the lower extremities; she gave birth to five sons, 3 of whom had both lymphedema of the lower extremities and cleft palate. Others have reported similar associations in the literature without calling attention to their relationship. In familial cases, an autosomal dominant mode of transmission with variable expression has been suggested. A common pathogenetic mechanism that might account for the localized lymphedema and associated cleft palate can only be speculated at this stage of our understanding of the condition.

摘要

这是一份关于一个患有早发性淋巴水肿和腭裂的家庭的报告。母亲仅患有下肢淋巴水肿;她育有五个儿子,其中三个既有下肢淋巴水肿又有腭裂。其他文献中也报道过类似的关联,但未提及它们之间的关系。在家族性病例中,已提出一种具有可变表达的常染色体显性遗传模式。在我们对该病症的理解现阶段,只能推测一种可能解释局部淋巴水肿和相关腭裂的共同发病机制。

相似文献

1
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.梅热氏病(家族性早发性淋巴水肿)与腭裂:一家系报告及文献复习
Cleft Palate J. 1983 Apr;20(2):151-7.
2
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.淋巴水肿-双行睫综合征:一种由FOXC2基因突变引起的独特类型的原发性淋巴水肿。
Int J Dermatol. 2008 Nov;47 Suppl 1:52-5. doi: 10.1111/j.1365-4632.2008.03962.x.
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[Meige-Milroy-Nonne disease. Report of a case in a six-month-old infant].[梅杰-米罗伊-诺内病。一名6个月大婴儿的病例报告]
Ann Pediatr (Paris). 1990 Sep;37(7):481-2.
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Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.一个携带FLT4突变的日本遗传性I型淋巴水肿家族的临床变异性。
Congenit Anom (Kyoto). 2005 Jun;45(2):59-61. doi: 10.1111/j.1741-4520.2005.00064.x.
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Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure.腭裂侧粘连综合征:独特手术闭合的契机。
Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6):861-6. doi: 10.1016/j.ijporl.2009.03.008. Epub 2009 Apr 14.
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[Cleft lip and palate. Epidemiologic analysis: report of 60 cases].[唇腭裂。流行病学分析:60例报告]
Ann Chir Plast Esthet. 2000 Aug;45(4):425-9.
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[Hereditary lymphedema (Nonne-Milroy-Meige syndrome) associated with chylothorax. Comments on 2 cases].
Rev Med Chir Soc Med Nat Iasi. 1990 Jan-Mar;94(1):189-92.
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Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate.伴有兔眼、双侧唇腭裂的独特颅面综合征。
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引用本文的文献

1
A Practical Approach to the Diagnosis of Lymphedema: A Narrative Review.淋巴水肿诊断的实用方法:一篇叙述性综述。
Dermatol Pract Concept. 2023 Jul 1;13(3):e2023132. doi: 10.5826/dpc.1303a132.