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A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia.

作者信息

Miltényi M, Balogh L, Schmidt K, Detre Z, Hernády T, Czeizel A

出版信息

Eur J Pediatr. 1984 Apr;142(1):40-3. doi: 10.1007/BF00442589.

DOI:10.1007/BF00442589
PMID:6714259
Abstract

The case of a 2-year-old boy with associated anomalies of the limbs and the urinary system is reported. Similar to cases reported earlier he presented a split hand and foot syndrome, but differed from previously reported cases by the presence of bilateral renal hypoplasia leading to end stage renal failure. Renal histology disclosed oligomeganephronia.

摘要

相似文献

1
A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia.
Eur J Pediatr. 1984 Apr;142(1):40-3. doi: 10.1007/BF00442589.
2
Acrorenal syndrome associated with visual defect.与视觉缺陷相关的肢端-肾综合征
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3
Autosomal recessive acrorenal syndrome.常染色体隐性遗传型肢端-肾脏综合征
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4
Oligomeganephronic renal hypoplasia.
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5
Oligomeganephronic renal hypoplasia.少巨肾单位性肾发育不全
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Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions.成人肢端-肾综合征——以蛋白尿、高血压和肾小球病变为表现
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引用本文的文献

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Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review.肾发育不全,从严重不足到差强人意:基于作者的观点和历史回顾,考虑扩大概念。
Adv Anat Pathol. 2020 Sep;27(5):311-330. doi: 10.1097/PAP.0000000000000269.
2
Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance.具有常染色体显性遗传的裂手、梗阻性泌尿异常和脊柱裂或膈缺陷综合征。
Hum Genet. 1987 Oct;77(2):203-4. doi: 10.1007/BF00272395.

本文引用的文献

1
[Bilateral renal hypoplasia with oligonephronia. (Study of 21 cases)].双侧肾发育不全伴肾单位减少症。(21例研究)
Arch Fr Pediatr. 1967 Mar;24(3):249-68.
2
Renal hypoplasia with oligomeganephronia: light, electron, fluorescent microscopic and quantitative studies.
Arch Pathol. 1974 Mar;97(3):143-9.
3
Bilateral renal hypoplasia with oligomeganephronia: quantitative and electron microsopic study.双侧肾发育不全伴少巨肾单位:定量及电子显微镜研究
Am J Clin Pathol. 1973 Jan;59(1):104-12. doi: 10.1093/ajcp/59.1.104.
4
[Malformation-retardation syndrome with lobster claws, coloboma of the iris, renal agenesia and ventricular septal defect].[伴有龙虾爪样畸形、虹膜缺损、肾缺如和室间隔缺损的发育迟缓综合征]
Klin Padiatr. 1972 Sep;184(5):389-92.
5
Associated acral and renal malformations: a new syndrome?
Pediatrics. 1972 May;49(5):716-25.
6
The acro-renal syndrome of Curran.柯伦的肢端-肾综合征
Dev Med Child Neurol. 1977 Aug;19(4):521-4. doi: 10.1111/j.1469-8749.1977.tb07948.x.
7
Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man.人类发育缺陷的术语学、诊断学、疾病分类学及解剖学-发育学方面
Adv Hum Genet. 1979;9:71-164. doi: 10.1007/978-1-4615-8276-2_2.