弗林斯综合征：一种具有膈肌缺损、面容粗糙和远端肢体发育不全的可变型大脑中动脉综合征。 - Suppr

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超能文献

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

作者信息

Fryns J P

出版信息

J Med Genet. 1987 May;24(5):271-4. doi: 10.1136/jmg.24.5.271.

DOI:10.1136/jmg.24.5.271

PMID:3585941

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050049/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6396/1050049/47ab11fb69f5/jmedgene00079-0015-a.jpg

相似文献

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.弗林斯综合征：一种具有膈肌缺损、面容粗糙和远端肢体发育不全的可变型大脑中动脉综合征。

J Med Genet. 1987 May;24(5):271-4. doi: 10.1136/jmg.24.5.271.

Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

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Fryns syndrome without diaphragmatic hernia?无膈疝的弗林斯综合征？

Am J Med Genet. 1991 Nov 1;41(2):255-7. doi: 10.1002/ajmg.1320410225.

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.伴有先天性巨结肠的弗林斯综合征：支持神经嵴可能受累的证据

Am J Med Genet A. 2005 Jan 15;132A(2):226-30. doi: 10.1002/ajmg.a.30423.

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.一种伴有角膜混浊、膈肌缺损和肢体远端畸形的新型致死综合征。

Hum Genet. 1979;50(1):65-70. doi: 10.1007/BF00295591.

Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.膈肌缺损、颅面畸形、腭裂和肢体远端畸形。——一种新的致死性综合征。

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The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.膈疝、面容异常和肢体远端畸形综合征（弗林斯综合征）：两例同胞病例报告及对这种多发性先天性畸形（MCA）综合征的进一步描述

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Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.致死性帕利斯特-基利安综合征：与弗林斯综合征的表型相似性。

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Documentation of anomalies not previously described in Fryns syndrome.记录弗林斯综合征中以前未描述过的异常情况。

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Skeletal manifestations in Fryns syndrome.

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引用本文的文献

Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the Gene-A Case Series.通过鉴定基因中的两种新型剪接变体对弗林斯综合征进行产前诊断——病例系列研究

Life (Basel). 2024 May 14;14(5):628. doi: 10.3390/life14050628.

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.作为糖基磷脂酰肌醇生物合成缺陷产前特征的膈疝及其与弗林斯综合征的重叠——文献综述

Front Genet. 2021 Jun 7;12:674722. doi: 10.3389/fgene.2021.674722. eCollection 2021.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.PIGN 基因杂合失活，包括雷岛（La Réunion Island）具有创始效应的内含子缺失，与 Fryns 综合征相关。

Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12.

Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.弗林斯综合征：一种致死性出生缺陷，在同胞中具有可变的表型表现。

Indian J Pediatr. 2014 Jun;81(6):614-6. doi: 10.1007/s12098-013-1011-1. Epub 2013 Apr 19.

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?一名新生儿在接触霉酚酸酯（MMF）后出现先天性膈疝和小耳畸形：是弗林斯综合征的拟表型还是广泛的致畸效应？

Am J Med Genet A. 2009 Jun;149A(6):1237-40. doi: 10.1002/ajmg.a.32684.

Genetic aspects of human congenital diaphragmatic hernia.人类先天性膈疝的遗传学方面

Clin Genet. 2008 Jul;74(1):1-15. doi: 10.1111/j.1399-0004.2008.01031.x. Epub 2008 May 28.

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.先天性膈疝（CDH）患者的比较基因组杂交（aCGH）研究结果：弗林斯综合征的一个可能基因座。

Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025.

Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.在一个庞大的巴基斯坦近亲家系中，先天性膈疝可能具有常染色体隐性遗传特征。

J Med Genet. 1997 Jul;34(7):601-3. doi: 10.1136/jmg.34.7.601.

Fryns syndrome.弗林斯综合征

J Med Genet. 1988 Feb;25(2):135. doi: 10.1136/jmg.25.2.135.

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?先天性巨结肠、指甲发育不全及轻微畸形特征：一种独特的常染色体隐性综合征？

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本文引用的文献

J Genet Hum. 1980 Mar;28(1):57-60.

Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

Am J Med Genet. 1983 Mar;14(3):461-6. doi: 10.1002/ajmg.1320140309.

The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.弗林斯综合征：膈肌缺损、颅面部畸形和远端指骨发育不全。常染色体隐性遗传的进一步证据。

Clin Genet. 1985 Dec;28(6):516-20. doi: 10.1111/j.1399-0004.1985.tb00419.x.

A case of Fryns syndrome.1例弗林斯综合征病例。

J Med Genet. 1986 Feb;23(1):82-4. doi: 10.1136/jmg.23.1.82.

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.一种伴有角膜混浊、膈肌缺损和肢体远端畸形的新型致死综合征。

Hum Genet. 1979;50(1):65-70. doi: 10.1007/BF00295591.

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