Literature DB >> 7702089

CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report.

J C de Almeida1, F R Vargas, J G Barbosa-Neto, J C Llerena.   

Abstract

We report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings of spondylo-epiphyseal dysplasia. The clinical picture resembles the CODAS syndrome described by Shebib et al. [Am J Med Genet 40: 88-93, 1991].

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Year:  1995        PMID： 7702089     DOI： 10.1002/ajmg.1320550107

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Authors:  Kevin A Strauss; Robert N Jinks; Erik G Puffenberger; Sundararajan Venkatesh; Kamalendra Singh; Iteen Cheng; Natalie Mikita; Jayapalraja Thilagavathi; Jae Lee; Stefan Sarafianos; Abigail Benkert; Alanna Koehler; Anni Zhu; Victoria Trovillion; Madeleine McGlincy; Thierry Morlet; Matthew Deardorff; A Micheil Innes; Chitra Prasad; Albert E Chudley; Irene Nga Wing Lee; Carolyn K Suzuki
Journal:  Am J Hum Genet       Date:  2015-01-08       Impact factor: 11.025

2.  Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Authors:  Graeme A M Nimmo; Sundararajan Venkatesh; Ashutosh K Pandey; Christian R Marshall; Lili-Naz Hazrati; Susan Blaser; Sohnee Ahmed; Jessie Cameron; Kamalendra Singh; Peter N Ray; Carolyn K Suzuki; Grace Yoon
Journal:  Hum Mol Genet       Date:  2019-01-15       Impact factor: 6.150

3.  Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.

Authors:  Seung Don Yoo; Young Rok Han; Dong Hwan Kim; Seung Ah Lee
Journal:  Medicine (Baltimore)       Date:  2019-06       Impact factor: 1.817
  3 in total

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