Literature DB >> 2063920

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta.

J Goldblatt1, P Carman, P Sprague.   

Abstract

We report a 3 1/2-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

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Mesh：

Year:  1991        PMID： 2063920     DOI： 10.1002/ajmg.1320390211

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


  4 in total

Review 1.  The type II collagenopathies: a spectrum of chondrodysplasias.

Authors:  J Spranger; A Winterpacht; B Zabel
Journal:  Eur J Pediatr       Date:  1994-02       Impact factor: 3.183

2.  A new form or a variant of SMD type A4.

Authors:  Ivo Marik; Olga Hudakova; Sarka Petrasova; Lukasz Kuszel; Malwina Czarny-Ratajczak; Kazimierz Kozlowski
Journal:  J Appl Genet       Date:  2012-04-24       Impact factor: 3.240

3.  Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.

Authors:  Dobrawa Napierala; Yao Sun; Izabela Maciejewska; Terry K Bertin; Brian Dawson; Rena D'Souza; Chunlin Qin; Brendan Lee
Journal:  J Bone Miner Res       Date:  2012-08       Impact factor: 6.741

4.  Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Authors:  Anika Wehrle; Tomasz M Witkos; Sheila Unger; Judith Schneider; John A Follit; Johannes Hermann; Tim Welting; Virginia Fano; Marja Hietala; Nithiwat Vatanavicharn; Katharina Schoner; Jürgen Spranger; Miriam Schmidts; Bernhard Zabel; Gregory J Pazour; Agnes Bloch-Zupan; Gen Nishimura; Andrea Superti-Furga; Martin Lowe; Ekkehart Lausch
Journal:  JCI Insight       Date:  2019-02-07
  4 in total

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