Literature DB >> 9245891

Rhombencephalosynapsis associated with hand anomalies.

U Aydingöz1, A Cila, G Aktan.   

Abstract

A case of rhombencephalosynapsis, a very rare disorder characterized by agenesis or hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres, is reported with magnetic resonance imaging features. Radiographs showed anomalies in both hands; namely phalangeal hypoplasia and occult polydactyly in the right hand and syndactyly in the left, previously unreported in association with this disorder.

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Mesh：

Year:  1997        PMID： 9245891     DOI： 10.1259/bjr.70.835.9245891

Source DB:  PubMed          Journal:  Br J Radiol        ISSN： 0007-1285            Impact factor:   3.039


  4 in total

Review 1.  Practical approach to prenatal posterior fossa abnormalities using MRI.

Authors:  Laurent Guibaud
Journal:  Pediatr Radiol       Date:  2004-08-04

2.  Rhombencephalosynapsis: association with single umbilical artery.

Authors:  Veena Kalra; Suvasini Sharma; Ajay Garg
Journal:  Indian J Pediatr       Date:  2008-09-22       Impact factor: 1.967

3.  Atypical craniosynostosis with torticollis and neurological symptoms: a rhombencephalosynapsis sequence.

Authors:  Virve Koljonen; Junnu Leikola; Leena Valanne; Jyri Hukki
Journal:  Case Rep Med       Date:  2009-12-16

4.  Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Authors:  Hannah M Tully; Jennifer C Dempsey; Gisele E Ishak; Margaret P Adam; Cynthia J R Curry; Pedro Sanchez-Lara; Alasdair Hunter; Karen W Gripp; Judith Allanson; Christopher Cunniff; Ian Glass; Kathleen J Millen; Daniel Doherty; William B Dobyns
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802
  4 in total

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