Literature DB >> 7363501

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

K Anyane-Yeboa, L Gunning, A D Bloom.   

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.

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Year:  1980        PMID: 7363501     DOI: 10.1111/j.1399-0004.1980.tb00126.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

1.  Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).

Authors:  P Galea; J L Tolmie
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Authors:  L Van Maldergem; H A Siitonen; N Jalkh; E Chouery; M De Roy; V Delague; M Muenke; E W Jabs; J Cai; L L Wang; S E Plon; C Fourneau; M Kestilä; Y Gillerot; A Mégarbané; A Verloes
Journal:  J Med Genet       Date:  2005-06-17       Impact factor: 6.318

3.  A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer.

Authors:  M Mihai; L Eitan; P Gad; L Daniela
Journal:  J Assist Reprod Genet       Date:  1996-01       Impact factor: 3.412

4.  The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

Authors:  S M Huson; C S Rodgers; C M Hall; R M Winter
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

5.  The Baller-Gerold syndrome.

Authors:  L Van Maldergem; A Verloes; L Lejeune; Y Gillerot
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 6.  Baller-Gerold syndrome associated with congenital portal venous malformation.

Authors:  R Savarirayan; P Tomlinson; E Thompson
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

7.  Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature.

Authors:  Ricardo Santos de Oliveira; Elizabeth Lajeunie; Eric Arnaud; Dominique Renier
Journal:  Childs Nerv Syst       Date:  2005-03-23       Impact factor: 1.475

Review 8.  Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

Authors:  F J Ramos Fuentes; L Nicholson; C I Scott
Journal:  Eur J Pediatr       Date:  1994-07       Impact factor: 3.183

  8 in total

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