Literature DB >> 7315870

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

M Z Pelias, D W Superneau, T F Thurmon.   

Abstract

We report a patient with craniosynostosis, radial aplasia, imperforate anus, and several associated congenital anomalies. It is concluded that she has the Baller-Gerold syndrome. Parenteral consanguinity supports the suggestion that this condition is inherited in an autosomal recessive manner.

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Mesh：

Year:  1981        PMID： 7315870     DOI： 10.1002/ajmg.1320100206

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


  10 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

Review 4.  Anorectal malformation: the etiological factors.

Authors:  Chen Wang; Long Li; Wei Cheng
Journal:  Pediatr Surg Int       Date:  2015-04-22       Impact factor: 1.827

5.  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

6.  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 7.  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

8.  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 9.  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

10.  Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia--neonatal and infantile course.

Authors:  A Artlich; J Möller; A Tschakaloff; E Schwinger; K Kruse; L Gortner
Journal:  Eur J Pediatr       Date:  1994-07       Impact factor: 3.183
  10 in total

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