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

作者信息

Lubinsky M, Severn C, Rapoport J M

出版信息

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

DOI:10.1002/ajmg.1320140309
PMID:6859098
Abstract

We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity.

摘要

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1
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.
2
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Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
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引用本文的文献

1
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.
2
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.弗林斯综合征：两例患有先天性膈疝的同胞病例报告
Pediatr Surg Int. 2011 Jun;27(6):567-71. doi: 10.1007/s00383-010-2831-y.
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Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report.
胎儿46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12)嵌合体先天性膈疝的产前诊断：一例报告
J Korean Med Sci. 2005 Oct;20(5):895-8. doi: 10.3346/jkms.2005.20.5.895.
4
Congenital diaphragmatic hernia: influence of associated malformations on survival.先天性膈疝：相关畸形对生存的影响。
Arch Dis Child Fetal Neonatal Ed. 1994 Mar;70(2):F159. doi: 10.1136/fn.70.2.f159-b.
5
Two fetuses with Fryns syndrome without diaphragmatic defects.两名患有弗林斯综合征但无膈肌缺陷的胎儿。
J Med Genet. 1994 Dec;31(12):962-4. doi: 10.1136/jmg.31.12.962.
6
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.多囊肾。遗传学、病理解剖学、临床表现及产前诊断。
Hum Genet. 1984;68(2):104-35. doi: 10.1007/BF00279301.
7
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.
8
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.
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J Med Genet. 1988 Nov;25(11):758-61. doi: 10.1136/jmg.25.11.758.