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Glaucoma in oculo-dento-osseous dysplasia.

作者信息

Traboulsi E I, Parks M M

机构信息

Department of Ophthalmology, Children's National Medical Center, Washington, D.C. 20010.

出版信息

Am J Ophthalmol. 1990 Mar 15;109(3):310-3. doi: 10.1016/s0002-9394(14)74556-8.

DOI:10.1016/s0002-9394(14)74556-8
PMID:2309863
Abstract

Two patients with oculo-dento-osseous dysplasia developed glaucoma in infancy or early childhood. Aggressive surgical management resulted in the preservation of vision in both patients in at least one eye. A review of published reports disclosed that glaucoma in oculo-dento-osseous dysplasia develops at different ages and is possibly secondary to a variety of mechanisms. Glaucoma is the main cause of visual loss in this syndrome, for which patients otherwise have a good prognosis for life and intellect. Early screening for glaucoma in oculo-dento-osseous dysplasia is mandatory, especially when there are symptoms that suggest high intraocular pressure.

摘要

相似文献

1
Glaucoma in oculo-dento-osseous dysplasia.
Am J Ophthalmol. 1990 Mar 15;109(3):310-3. doi: 10.1016/s0002-9394(14)74556-8.
2
[Oculo-dento-digital syndrome. (Oculo-dento-digital dysplasia)].
Pediatrie. 1976 Sep;31(6):593-601.
3
[Syndrome of oculo-dento-digital dysplasia].
Vestn Dermatol Venerol. 1976 Nov(11):58-60.
4
[Juvenile open angle glaucoma with microcornea in oculo-dento-digital dysplasia (Meyer-Schwickerath-Weyers syndrome)].[眼-牙-指发育不全(迈耶-施维克勒拉特-魏尔斯综合征)合并小角膜的青少年开角型青光眼]
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5
[Two new cases of the oculo-dento-digital syndrome (author's transl)].眼牙指综合征两例新病例(作者译)
Ann Chir. 1979;33(9):739-40.
6
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.持续性增生性原发性玻璃体病变和隐性眼牙骨发育不良。
Am J Med Genet. 1986 May;24(1):95-100. doi: 10.1002/ajmg.1320240111.
7
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.三种新的 GJA1 错义突变导致眼齿指(趾)发育不良(ODDD)——突变谱的进一步扩展。
Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6.
8
[Oculo-dento-digital syndrome].
Arch Kinderheilkd. 1971 May;183(1):76-9.
9
Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father.眼-牙-指发育不全(OMIM *164200)。一名9.5岁女孩出现该综合征的全部表现,其父亲患有Ⅲ型并指(趾)畸形。
Genet Couns. 2002;13(2):187-9.
10
[Dysplasia oculo-dento-digitalis (author's transl)].眼-牙-指发育异常(作者译)
Monatsschr Kinderheilkd (1902). 1973 Sep;121(9):595-9.

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Heterozygous variants with ocular phenotype: Missense in domain but truncation out of domain.具有眼部表型的杂合变异体:域内错义突变但域外截断。
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Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.眼牙指发育不全:一例报告及295例报告病例的眼部和眼附属器特征的主要综述
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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.连接蛋白43(GJA1)突变导致眼牙指发育异常的多效性表型。
Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.