颅缝早闭-桡骨发育不全综合征 - Suppr

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Craniosynostosis--radial aplasia syndrome.

作者信息

Greitzer L J, Jones K L, Schnall B S, Smith D W

出版信息

J Pediatr. 1974 May;84(5):723-4. doi: 10.1016/s0022-3476(74)80017-x.

DOI:10.1016/s0022-3476(74)80017-x

PMID:4820706

Abstract

摘要

相似文献

Craniosynostosis--radial aplasia syndrome.颅缝早闭-桡骨发育不全综合征

J Pediatr. 1974 May;84(5):723-4. doi: 10.1016/s0022-3476(74)80017-x.

Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).患有巴勒-杰罗尔德综合征（颅缝早闭和桡骨发育不全）儿童的正常生长发育。

J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.

Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.

Am J Med Genet. 1990 Dec;37(4):447-50. doi: 10.1002/ajmg.1320370403.

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.费城型颅缝早闭：一种新的常染色体显性综合征，伴有矢状缝颅缝早闭及手指和脚趾并指（趾）畸形。

Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K.

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

Clin Genet. 1980 Feb;17(2):161-6. doi: 10.1111/j.1399-0004.1980.tb00126.x.

Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.

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Neonatal hyperthyroidism with accelerated skeletal maturation, craniosynostosis, and brachydactyly.

Radiology. 1972 Dec;105(3):621-5. doi: 10.1148/105.3.621.

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.伴有多种先天性畸形的遗传性综合征的家系研究：指关节粘连、腕跗骨融合、短指畸形、颅缝早闭、斜视、髋关节骨软骨炎。

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Skeletal anomalies in genetically determined congenital heart disease.

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Craniosynostosis-radial aplasia: Baller-Gerold syndrome.颅缝早闭-桡骨发育不全：巴莱-杰罗尔德综合征。

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引用本文的文献

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.重新审视颅缝早闭-桡骨发育不全关联：由RECQL4基因突变引起的巴莱尔-杰罗尔德综合征。

J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17.

Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature.胎儿暴露于丙戊酸钠与巴勒-杰罗尔德综合征相关：病例报告及文献综述

Childs Nerv Syst. 2006 Jan;22(1):90-4. doi: 10.1007/s00381-004-1089-x. Epub 2005 Mar 23.

Baller-Gerold syndrome.

Indian J Pediatr. 2002 Dec;69(12):1097-8. doi: 10.1007/BF02724398.

Baller-Gerold syndrome associated with congenital portal venous malformation.伴有先天性门静脉畸形的巴勒尔-杰罗尔德综合征

J Med Genet. 1998 Sep;35(9):767-9. doi: 10.1136/jmg.35.9.767.

A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer.1例体外受精-胚胎移植后发生的巴莱-杰罗尔德综合征病例。

J Assist Reprod Genet. 1996 Jan;13(1):79-81. doi: 10.1007/BF02068875.

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

Eur J Pediatr. 1994 Jul;153(7):483-7. doi: 10.1007/BF01957001.

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.巴莱-杰罗尔德综合征：与罗伯茨综合征的表型和细胞遗传学重叠

J Med Genet. 1990 Jun;27(6):371-5. doi: 10.1136/jmg.27.6.371.

J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.

The Baller-Gerold syndrome.巴莱-杰罗尔德综合征

J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266.

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