Literature DB >> 12558115

Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

D F Schorderet1, M C Addor, Ph Maeder, E Roulet, L Junier.   

Abstract

Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome.

Entities:  

Mesh：

Year:  2002        PMID： 12558115

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  3 in total

1.  Filippi Syndrome: Report of a Rare Case.

Authors:  Lata Goyal; Jagdish Prasad Goyal; Bhanu Kiran Bhakhri; Ashi Chug
Journal:  J Clin Diagn Res       Date:  2015-12-01

2.  Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Authors:  Muhammad Sajid Hussain; Agatino Battaglia; Sandra Szczepanski; Emrah Kaygusuz; Mohammad Reza Toliat; Shin-ichi Sakakibara; Janine Altmüller; Holger Thiele; Gudrun Nürnberg; Shahida Moosa; Gökhan Yigit; Filippo Beleggia; Sigrid Tinschert; Jill Clayton-Smith; Pradeep Vasudevan; Jill E Urquhart; Dian Donnai; Alan Fryer; Ferda Percin; Francesco Brancati; Angus Dobbie; Robert Smigiel; Gabriele Gillessen-Kaesbach; Bernd Wollnik; Angelika Anna Noegel; William G Newman; Peter Nürnberg
Journal:  Am J Hum Genet       Date:  2014-11-06       Impact factor: 11.025

3.  Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Authors:  Ryan J Patrick; Jill Weimer; Laura Davis-Keppen; Megan L Landsverk
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24
  3 in total

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