Literature DB >> 18541959

Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?

Mary C O'Driscoll1, Jill Clayton-Smith.   

Abstract

Three individuals from two families with bilateral camptodactyly and recurrent patellar subluxation are presented. All three have features of Di George syndrome owing to a 22q11 deletion. Hand abnormalities are infrequently seen in 22q11 deletions. Only one previous report exists of camptodactyly with patellar subluxation.

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Year:  2008        PMID: 18541959     DOI: 10.1097/MCD.0b013e3283023d0c

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome.

Authors:  Massimo Berruto; Andrea Parente; Paolo Ferrua; Stefano Pasqualotto; Francesco Uboldi; Eva Usellini
Journal:  Case Rep Orthop       Date:  2015-12-13

2.  Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly.

Authors:  Hao Deng; Sheng Deng; Hongbo Xu; Han-Xiang Deng; Yulan Chen; Lamei Yuan; Xiong Deng; Shengbo Yang; Liping Guan; Jianguo Zhang; Hong Yuan; Yi Guo
Journal:  PLoS One       Date:  2016-05-25       Impact factor: 3.240

  2 in total

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