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Dorfman-chanarin综合征：一例报告。

Dorfman-chanarin syndrome: a case report.

作者信息

Methre Seema T, Godbole Ravibhushan R, Nayar Priyanka S, Manchanda Rumma V

机构信息

Department of Pathology, K.E.M. Hospital, Sardar Moodliar Road, Rasta Peth, Pune, Maharashtra 411011 India.

出版信息

Indian J Hematol Blood Transfus. 2012 Mar;28(1):50-3. doi: 10.1007/s12288-011-0091-1. Epub 2011 Jul 6.

DOI:10.1007/s12288-011-0091-1
PMID:23450106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3311961/
Abstract

An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia. His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans' anomaly). He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman-Chanarin syndrome.

摘要

一名8岁男性儿童，先天性鱼鳞病确诊病例，出现腹胀、肝肿大和全血细胞减少。他的外周血和骨髓显示白细胞中有明显的胞浆内空泡（乔丹氏异常）。他有内斜视、睑外翻、睑缘炎和膝外翻。他被诊断为多夫曼-查纳林综合征病例。

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本文引用的文献

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Dorfman-Chanarin syndrome: case report with multisystem involvement.
Pediatr Ann. 2008 May;37(5):353-7, 359-60. doi: 10.3928/00904481-20080501-11.
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3
Dorfman-Chanarin syndrome: a case with hyperlipidemia.Dorfman-Chanarin综合征：一例伴有高脂血症的病例。
Turk J Pediatr. 2006 Jul-Sep;48(3):263-5.
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Ichthyosiform dermatosis with systemic lipidosis.鱼鳞病样皮肤病伴系统性脂质沉积症
Arch Dermatol. 1974 Aug;110(2):261-6.

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