Literature DB >> 2074565

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

P Galea1, J L Tolmie.   

Abstract

The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.

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Year:  1990        PMID: 2074565      PMCID: PMC1017284          DOI: 10.1136/jmg.27.12.784

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  [Healing of a fracture in an unusual case of congenital anomaly of the upper extremities].

Authors:  M GEROLD
Journal:  Zentralbl Chir       Date:  1959-05-23       Impact factor: 0.942

2.  Craniosynostosis--radial aplasia syndrome.

Authors:  L J Greitzer; K L Jones; B S Schnall; D W Smith
Journal:  J Pediatr       Date:  1974-05       Impact factor: 4.406

3.  Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins.

Authors:  K C Woon; V G Kokich; S K Clarren; M M Cohen
Journal:  Teratology       Date:  1980-08

4.  Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

Authors:  K Anyane-Yeboa; L Gunning; A D Bloom
Journal:  Clin Genet       Date:  1980-02       Impact factor: 4.438

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

Authors:  M Z Pelias; D W Superneau; T F Thurmon
Journal:  Am J Med Genet       Date:  1981

6.  Craniosynostosis-radial aplasia: Baller-Gerold syndrome.

Authors:  M Feingold; S L Sklower; J P Willner; R H Desnick; M M Cohen
Journal:  Am J Dis Child       Date:  1979-12
  6 in total
  7 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

Review 3.  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

4.  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

5.  The mutation spectrum in RECQL4 diseases.

Authors:  H Annika Siitonen; Jenni Sotkasiira; Martine Biervliet; Abdelmadjid Benmansour; Yline Capri; Valerie Cormier-Daire; Barbara Crandall; Katariina Hannula-Jouppi; Raoul Hennekam; Denise Herzog; Kathelijn Keymolen; Marita Lipsanen-Nyman; Peter Miny; Sharon E Plon; Stefan Riedl; Ajoy Sarkar; Fernando R Vargas; Alain Verloes; Lisa L Wang; Helena Kääriäinen; Marjo Kestilä
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

Review 6.  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

7.  Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Authors:  Amira Elmakky; Ilaria Stanghellini; Antonio Landi; Antonio Percesepe
Journal:  Curr Genomics       Date:  2015-08       Impact factor: 2.236

  7 in total

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