Literature DB >> 2260585

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

J M Boudreaux1, M A Colon, G D Lorusso, E A Parro, M Z Pelias.   

Abstract

We report on a patient with craniosynostosis, left radius aplasia, right radius hypoplasia, and other congenital anomalies. This is the 11th reported case of the Baller-Gerold syndrome. Autosomal recessive inheritance of this syndrome is suggested by evidence of probable parental consanguinity.

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Year:  1990        PMID： 2260585     DOI： 10.1002/ajmg.1320370403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  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

2.  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

3.  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 4.  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

Review 5.  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
  5 in total

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