Literature DB >> 7957363

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

F J Ramos Fuentes1, L Nicholson, C I Scott.   

Abstract

We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.

Entities:  

Mesh:

Year:  1994        PMID: 7957363     DOI: 10.1007/BF01957001

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  13 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.  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

3.  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

4.  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

Review 5.  Further delineation of the Baller-Gerold syndrome.

Authors:  A E Lin; E McPherson; N A Nwokoro; M Clemens; H W Losken; J J Mulvihill
Journal:  Am J Med Genet       Date:  1993-02-15

6.  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

Review 7.  Baller-Gerold syndrome: case report and clinical and radiological review.

Authors:  B Dallapiccola; L Zelante; R Mingarelli; M Pellegrino; V Bertozzi
Journal:  Am J Med Genet       Date:  1992-02-01

8.  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

9.  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

10.  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
View more
  6 in total

1.  Baller-Gerold syndrome.

Authors:  P Anoop; C K Sasidharan
Journal:  Indian J Pediatr       Date:  2002-12       Impact factor: 1.967

2.  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 3.  Metopic synostosis.

Authors:  Jacques van der Meulen
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

4.  Baller-gerold syndrome a rare cause of heart-hand syndrome.

Authors:  Mohit D Gupta; Girish M P; Saibal Mukhopadhyay; Jamal Yusuf; Sanjay Tyagi
Journal:  ISRN Cardiol       Date:  2011-04-07

5.  Radial, renal and craniofacial anomalies: Baller-Gerold syndrome.

Authors:  Jyotsna Murthy; Ramesh Babu; Padmasani Venkat Ramanan
Journal:  Indian J Plast Surg       Date:  2008-01

6.  Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate.

Authors:  Mary Lype; Py Henry; Cs Aravind; K Arun
Journal:  Ann Indian Acad Neurol       Date:  2008-01       Impact factor: 1.383

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.