[May-Hegglin综合征。伴有中性粒细胞包涵体的遗传性巨血小板减少症]
[May-Hegglin's syndrome. Hereditary macrothrombocytopenia with inclusions in neutrophil granulocytes].
作者信息
Stavem P, Hovig T, Brosstad F, Holm B
机构信息
Hematologisk seksjon Medisinsk avdeling A, Rikshospitalet, Oslo.
出版信息
Tidsskr Nor Laegeforen. 1997 May 30;117(14):2036-8.
PMID:9235682
Abstract
May-Hegglin's anomaly is a rare, autosomally dominant inherited syndrome not previously described in Norway. We report two cases, sisters with characteristic light and electron microscopic inclusions in the granulocytes, thrombocytopenia and giant platelets. The relevant literature is briefly reviewed.
摘要
May-Hegglin异常是一种罕见的常染色体显性遗传综合征，此前在挪威尚未有过描述。我们报告了两例病例，为姐妹俩，她们的粒细胞中有特征性的光镜和电镜下包涵体、血小板减少以及巨大血小板。本文对相关文献进行了简要综述。
相似文献
1
[May-Hegglin's syndrome. Hereditary macrothrombocytopenia with inclusions in neutrophil granulocytes].[May-Hegglin综合征。伴有中性粒细胞包涵体的遗传性巨血小板减少症]
Tidsskr Nor Laegeforen. 1997 May 30;117(14):2036-8.
2
3
Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.
Blut. 1990 Nov;61(5):282-8. doi: 10.1007/BF01732878.
4
[The ultrastructure of megathrombocytes in May-Hegglin's anomaly].[May-Hegglin异常中巨型血小板的超微结构]
Folia Haematol Int Mag Klin Morphol Blutforsch. 1982;109(2):278-89.
5
A variant of the Sebastian platelet syndrome with unique neutrophil inclusions.
Platelets. 2002 Mar;13(2):121-7. doi: 10.1080/09537100120112549.
6
Fechtner syndrome: clinical and genetic aspects.
Am J Med Genet. 1988 Oct;31(2):357-67. doi: 10.1002/ajmg.1320310213.
7
[May-Hegglin anomaly--from genome research to clinical laboratory].[迈-赫二氏异常——从基因组研究到临床实验室]
Rinsho Byori. 2003 Sep;51(9):898-904.
8
9
Sebastian platelet syndrome: two Japanese families originally diagnosed with May-Hegglin anomaly.塞巴斯蒂安血小板综合征：两个最初被诊断为May-Hegglin异常的日本家族。
Int J Hematol. 1999 Dec;70(4):290-3.
10
[Twenty-one cases of Sebastian platelet syndrome].[21例塞巴斯蒂安血小板综合征]
Rinsho Ketsueki. 2001 Nov;42(11):1139-41.
Zotero 插件