Craniosynostosis radial aplasia syndrome

Also Known As:

Baller-Gerold syndrome; Craniosynostosis with radial defects; Craniosynostosis-Radial Aplasia Syndrome

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson)
2.	Synostosis
3.	Werner Syndrome (Werner's Syndrome)
4.	Osteosarcoma (Osteogenic Sarcoma)
5.	Bloom Syndrome

Experts

1.	Balajee, Adayabalam S: 2 articles (01/2021 - 09/2018)
2.	Arnaud, Eric: 2 articles (01/2006 - 04/2005)
3.	Lajeunie, Elizabeth: 2 articles (01/2006 - 04/2005)
4.	Renier, Dominique: 2 articles (01/2006 - 04/2005)
5.	Chen, Zixiang: 1 article (09/2018)
6.	Fang, Hongbo: 1 article (09/2018)
7.	Li, Yueyang: 1 article (09/2018)
8.	Mo, Dongliang: 1 article (09/2018)
9.	Niu, Kaifeng: 1 article (09/2018)
10.	Tan, Qunsong: 1 article (09/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Craniosynostosis radial aplasia syndrome:

1.	RecQ HelicasesIBA 09/12/2018 - "Mutations in RecQL4 helicase results in three clinically related autosomal recessive disorders: Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome. " 04/01/2013 - "Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO. " 04/15/2007 - "Mutations in a human RecQ helicase homologue, RECQL4, have been identified in patients with Type II Rothmund-Thomson syndrome (RTS) with osteosarcoma predisposition, RAPADILINO syndrome, and Baller-Gerold syndrome. " 01/01/2021 - "Inactivating mutations in 3 of the 5 human RecQ helicases are responsible for the pathogenesis of Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome (BGS). "
2.	Valproic Acid (Depakote)FDA LinkGeneric 11/01/2009 - "Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family." 01/01/2008 - "Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate." 01/01/2006 - "Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature." 04/01/2005 - "Baller-Gerold syndrome after fetal exposure to sodium valproate." 01/01/2006 - "We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). "

Therapies and Procedures

Sutures (Suture)

02/01/1980 - "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. "
01/01/2006 - "We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). "