伴有眼底大理石样改变及特殊骨骼异常的Senior-Løken综合征。病例报告。 - Suppr

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超能文献

Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.

作者信息

Lauweryns B, Leys A, Van Haesendonck E, Missotten L

机构信息

Department of Ophthalmology, Catholic University of Leuven, Belgium.

出版信息

Graefes Arch Clin Exp Ophthalmol. 1993 Apr;231(4):242-6. doi: 10.1007/BF00918849.

DOI:10.1007/BF00918849

PMID:8486308

Abstract

摘要

相似文献

Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.伴有眼底大理石样改变及特殊骨骼异常的Senior-Løken综合征。病例报告。

Graefes Arch Clin Exp Ophthalmol. 1993 Apr;231(4):242-6. doi: 10.1007/BF00918849.

Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis.伴有眼底大理石样改变的莱伯先天性黑矇和青少年肾单位肾痨。

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Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life.莱伯先天性黑矇在人生第二个至第四个十年的临床谱。

Ophthalmology. 1990 Sep;97(9):1156-61. doi: 10.1016/s0161-6420(90)32442-9.

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).与家族性青少年肾单位肾痨及手部锥形骨骺相关的莱伯先天性黑矇（萨尔迪诺－梅恩泽尔综合征）

Am J Ophthalmol. 1984 Feb;97(2):233-9. doi: 10.1016/s0002-9394(14)76095-7.

Senior-Loken syndrome: revisited.

Pediatrics. 1994 Jul;94(1):111-2.

[Familial nephronophthisis. The Senior-Loken syndrome].[家族性肾单位肾痨。Senior-Loken综合征]

Klin Monbl Augenheilkd. 1982 Nov;181(5):379-82. doi: 10.1055/s-2008-1055249.

Familial occurrence of congenital retinal blindness and developmental renal lesions.先天性视网膜失明和发育性肾脏病变的家族性发病情况。

J Genet Hum. 1969 Oct;17(3):289-96.

Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.莱伯先天性黑蒙。43例回顾性研究及2例新的眼底表现

Arch Ophthalmol. 1987 Mar;105(3):356-9. doi: 10.1001/archopht.1987.01060030076030.

Leber's congenital amaurosis.莱伯先天性黑矇

Bull Soc Belge Ophtalmol. 1991;241:41-50.

Leber congenital amaurosis in an infant with Down syndrome.

Ann Ophthalmol. 1992 Jul;24(7):250-2.

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本文引用的文献

[Unusual modifications of the retina in Laurence-Biedl syndrome].

Klin Monbl Augenheilkd Augenarztl Fortbild. 1950;116(4):337-9.

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)].[家族性青少年肾单位肾痨（特发性实质性萎缩肾）]

Helv Paediatr Acta. 1951 Feb;6(1):1-49.

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.伴有视网膜色素变性的青少年家族性肾病。一种新的眼肾营养不良症。

Am J Ophthalmol. 1961 Nov;52:625-33. doi: 10.1016/0002-9394(61)90147-7.

Hereditary renal dysplasia and blindness.遗传性肾发育不全与失明。

Acta Paediatr (Stockh). 1961 Mar;50:177-84. doi: 10.1111/j.1651-2227.1961.tb08037.x.

Amaurosis congenita (Leber).

AMA Arch Ophthalmol. 1959 Feb;61(2):211-8. doi: 10.1001/archopht.1959.00940090213003.

[Infantile tapeto-retinal degeneration, Leber type, with marbled aspect of periphery of eye fundus].[婴儿型莱伯型视网膜色素变性，眼底周边呈大理石样外观]

Ophthalmologica. 1958 May-Jun;135(5-6):610-6. doi: 10.1159/000303361.

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia].[视网膜电图在伴有视野缩小和夜盲的视网膜色素变性中的诊断和预后意义]

Confin Neurol. 1954;14(2-3):184-6.

Hereditary renal-retinal dysplasia.遗传性肾视网膜发育不良。

Doc Ophthalmol. 1980 Oct 15;49(2):347-59. doi: 10.1007/BF01886626.

Am J Ophthalmol. 1984 Feb;97(2):233-9. doi: 10.1016/s0002-9394(14)76095-7.

Yellowish flecks in Leber's congenital amaurosis.莱伯先天性黑矇中的淡黄色斑点。

Br J Ophthalmol. 1984 Oct;68(10):727-31. doi: 10.1136/bjo.68.10.727.

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