Literature DB >> 9377810

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.

M Romanengo1, P Tortori-Donati, M Di Rocco.   

Abstract

We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.

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Year:  1997        PMID： 9377810     DOI： 10.1111/j.1399-0004.1997.tb02542.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.

Authors:  F Démurger; L Pasquier; C Dubourg; V Dupé; I Gicquel; C Evain; L Ratié; S Jaillard; M Beri; B Leheup; J Lespinasse; D Martin-Coignard; S Mercier; C Quelin; P Loget; P Marcorelles; A Laquerrière; C Bendavid; S Odent; V David
Journal:  Mol Syndromol       Date:  2013-08-01

Review 2.  Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Authors:  Kimberly A Aldinger; Jennifer C Dempsey; Hannah M Tully; Megan E Grout; Michele G Mehaffey; William B Dobyns; Dan Doherty
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-12       Impact factor: 3.908

3.  Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Authors:  Gisele E Ishak; Jennifer C Dempsey; Dennis W W Shaw; Hannah Tully; Margaret P Adam; Pedro A Sanchez-Lara; Ian Glass; Tessa C Rue; Kathleen J Millen; William B Dobyns; Dan Doherty
Journal:  Brain       Date:  2012-03-26       Impact factor: 13.501

4.  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

Review 5.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

6.  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
  6 in total

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