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Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome.

作者信息

Mücke J, Hoepffner W, Scheerschmidt G, Gornig H, Beyreiss K

出版信息

Eur J Pediatr. 1986 Aug;145(3):195-8. doi: 10.1007/BF00446064.

DOI:10.1007/BF00446064
PMID:3769974
Abstract

We report on two brothers with chronic congenital lymphoedema. Besides the oedemas of limbs we found an unusual facial appearance, abnormalities of external genitals as a deformation sequence resulting from intrauterine oedemas and intestinal lymphoedema. This X-linked or autosomal recessive trait may be a new entity, to be differentiated from other genetic lymphoedema syndromes, the so-called familial protein-losing enteropathy, and dominantly inherited intestinal lymphangiectasia. A prominent sign of the syndrome is chemosis and injection of conjunctiva.

摘要

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本文引用的文献

1
CONGENITAL HEREDITARY LYMPHOEDEMA.先天性遗传性淋巴水肿
J Med Genet. 1965 Jun;2(2):93-8. doi: 10.1136/jmg.2.2.93.
2
A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES.一种翼状胬肉合并眼睑及下肢淋巴管发育异常的新综合征。
Trans Am Ophthalmol Soc. 1964;62:248-75.
3
Syndrome of lymphoedema and distichiasis.淋巴水肿与双行睫综合征
Hum Genet. 1980;53(3):309-10. doi: 10.1007/BF00287047.
4
Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy.
Am J Med Genet. 1983 Sep;16(1):99-104. doi: 10.1002/ajmg.1320160115.
5
Yellow nail syndrome: with familiar primary hypoplasia of lymphatics, manifest late in life.黄甲综合征：伴有家族性原发性淋巴管发育不全，发病较晚。
Proc R Soc Med. 1966 May;59(5):447. doi: 10.1177/003591576605900529.
6
Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family.一个家族中的原发性肺动脉高压、脑血管畸形和足部淋巴水肿
Br Heart J. 1968 Nov;30(6):769-75. doi: 10.1136/hrt.30.6.769.
7
Hereditary recurrent cholestasis with lymphoedema--two new families.伴有淋巴水肿的遗传性复发性胆汁淤积症——两个新病例家族
Acta Paediatr Scand. 1974 May;63(3):465-71. doi: 10.1111/j.1651-2227.1974.tb04832.x.
8
A family with protein-losing enteropathy.一个患有蛋白丢失性肠病的家庭。
Gastroenterology. 1974 Mar;66(3):433-45.
9
[Exsudative enteropathy in congenital intestinal lymphangiectasis with multiple skeletal changes].[先天性肠淋巴管扩张症伴多发性骨骼改变的渗出性肠病]
Acta Paediatr Acad Sci Hung. 1974;15(1):17-25.
10
[The trophedema (Nonne-Milroy-Meige). Carcinogenesis as a rare complication].[热带性水肿（农内-米尔罗伊-梅热综合征）。作为一种罕见并发症的致癌作用]
Dermatol Monatsschr. 1976 Jun;162(6):465-77.