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Schinzel-Giedion syndrome and congenital megacalyces.

作者信息

Herman T E, Sweetser D A, McAlister W H, Dowton S B

机构信息

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri 63110.

出版信息

Pediatr Radiol. 1993;23(2):111-2. doi: 10.1007/BF02012399.

DOI:10.1007/BF02012399
PMID:8516031
Abstract

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

摘要

相似文献

1
Schinzel-Giedion syndrome and congenital megacalyces.
Pediatr Radiol. 1993;23(2):111-2. doi: 10.1007/BF02012399.
2
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.
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3
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7
The Schinzel-Giedion syndrome.辛泽尔-吉迪恩综合征
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Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.与47,XXY核型相关的申泽尔-吉迪恩综合征中的胼胝体发育不全。
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Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.先天性肾积水、骨骼发育不良和严重发育迟缓：施因策尔-吉迪恩综合征。
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引用本文的文献

1
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.申泽尔-吉迪恩综合征：一例新病例、综述及修订的诊断标准。
J Genet. 2018 Mar;97(1):35-46.
2
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.一名土耳其患者患辛泽尔-吉迪恩综合征伴先天性巨肾盏：SETBP1突变报告及临床特征文献综述
Case Rep Genet. 2017;2017:3740524. doi: 10.1155/2017/3740524. Epub 2017 Dec 3.
3
Radiological findings and the clinical importance of megacalycosis.

本文引用的文献

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Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.先天性肾积水、骨骼发育不良和严重发育迟缓：施因策尔-吉迪恩综合征。
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Megacalycosis.
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Res Rep Urol. 2015 Oct 19;7:153-5. doi: 10.2147/RRU.S81519. eCollection 2015.
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Genetic and epigenetic variants contributing to clofarabine cytotoxicity.导致氯法拉滨细胞毒性的遗传和表观遗传变异。
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Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities.产前检测到的肾盂输尿管连接处梗阻：临床特征及相关泌尿系统异常
Pediatr Surg Int. 2008 Apr;24(4):395-402. doi: 10.1007/s00383-008-2112-1. Epub 2008 Feb 7.
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Megacalyces.巨肾盏
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The coexistence of congenital megacalyces and primary megaureter.先天性巨肾盏与原发性巨输尿管并存。
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6
Familial megacalyces with autosomal recessive inheritance. Report of 3 affected siblings.常染色体隐性遗传的家族性巨肾盏。3名患病同胞的报告。
Pediatr Radiol. 1988;19(1):28-30. doi: 10.1007/BF02388404.
7
The Schinzel-Giedion syndrome. A case report and review of the literature.
Clin Pediatr (Phila). 1990 Apr;29(4):235-9. doi: 10.1177/000992289002900407.
8
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.同胞中出现的严重面中部回缩、多发颅骨异常、马蹄内翻足以及心脏和肾脏畸形综合征。
Am J Med Genet. 1978;1(4):361-75. doi: 10.1002/ajmg.1320010402.
9
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies.另一例新综合征，包括面中部后缩、多毛症和骨骼异常。
J Med Genet. 1979 Dec;16(6):483-6. doi: 10.1136/jmg.16.6.483.