Literature DB >> 16752352

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.

Mehmet Selim Nural1, H Bariş Diren, Ozgür Sakarya, Türkay Yalin, Ayhan Dağdemir.   

Abstract

Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient. In this study, radiographic findings of a 16 month-old male patient diagnosed as Kozlowski type spondylometaphyseal dysplasia is reported.

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Year:  2006        PMID： 16752352

Source DB:  PubMed          Journal:  Diagn Interv Radiol        ISSN： 1305-3825            Impact factor:   2.630


  6 in total

1.  SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

Authors:  Tadeusz Bieganski; Peter Beighton; Maciej Lukaszewski; Krzysztof Bik; Lukasz Kuszel; Ewa Wasilewska; Kazimierz Kozlowski; Malwina Czarny-Ratajczak
Journal:  Eur J Med Genet       Date:  2017-07-04       Impact factor: 2.708

2.  Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors:  Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

3.  Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.

Authors:  Stephen Loukin; Zhenwei Su; Ching Kung
Journal:  PLoS One       Date:  2011-05-05       Impact factor: 3.240

4.  TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Authors:  Elena Andreucci; Salim Aftimos; Melanie Alcausin; Eric Haan; Warwick Hunter; Peter Kannu; Bronwyn Kerr; George McGillivray; R J McKinlay Gardner; Maria G Patricelli; David Sillence; Elizabeth Thompson; Margaret Zacharin; Andreas Zankl; Shireen R Lamandé; Ravi Savarirayan
Journal:  Orphanet J Rare Dis       Date:  2011-06-09       Impact factor: 4.123

5.  Atlantoaxial dislocation in a patient with nonsyndromic symmetrical dwarfism: Report of a rare case.

Authors:  Duvuru Ram; Venkatesh S Madhugiri; V R Roopesh Kumar; Reena Gulati; Gopalakrishnan M Sasidharan; Sudheer Kumar Gundamaneni
Journal:  J Craniovertebr Junction Spine       Date:  2015 Jan-Mar

6.  Spondylometaphyseal dysplasia: an uncommon disease.

Authors:  Márcio Luís Duarte; Élcio Roberto Duarte; Daniela Brasil Solorzano; Edgar Brasil Solorzano; Jael Brasil de Alcântara Ferreira
Journal:  Radiol Bras       Date:  2017 Jan-Feb
  6 in total

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