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Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

作者信息

Anyane-Yeboa K, Gunning L, Bloom A D

出版信息

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

DOI:10.1111/j.1399-0004.1980.tb00126.x
PMID:7363501
Abstract

A new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.

摘要

相似文献

1
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.
Clin Genet. 1980 Feb;17(2):161-6. doi: 10.1111/j.1399-0004.1980.tb00126.x.
2
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.一名患有桡骨发育不全和颅缝早闭患者的TWIST基因突变:Baller-Gerold综合征异质性的进一步证据。
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Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.
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Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.
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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.
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The Baller-Gerold syndrome.巴莱-杰罗尔德综合征
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Baller-Gerold syndrome: case report and clinical and radiological review.巴莱尔-杰罗尔德综合征:病例报告及临床与影像学综述
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Another TWIST on Baller-Gerold syndrome.
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Expanding the phenotypic spectrum of the Baller-Gerold syndrome.扩展巴勒-杰罗尔德综合征的表型谱。
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引用本文的文献

1
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.
2
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.
3
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.
4
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.
5
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.
6
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.
7
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.
8
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.