Literature DB >> 1870931

The spondylometaphyseal dysplasias. A tentative classification.

P Maroteaux1, J Spranger.   

Abstract

The spondylometaphyseal dysplasias constitute a very complex group of disorders. In addition to the Kozlowski type, three subgroups can be distinguished by the appearance of the femoral neck. In the first group (A) the changes are severe with absent ossification of the femoral neck and coxa vara. In the second group (B) the changes of the femoral neck are moderate and in the third (C) mild metaphyseal irregularities are only visible. This classification is not definitive but tries to put order in this confusing section of constitutional bone diseases.

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Mesh：

Year:  1991        PMID： 1870931     DOI： 10.1007/bf02018629

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  7 in total

1.  Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis.

Authors:  B J SCHMIDT; W BECAK; M L BECAK; I SOIBELMAN; A S da QUEIROZ; A P LORGA; F SECAF; C F ANTONIO; A A de CARVALHO
Journal:  J Pediatr       Date:  1963-07       Impact factor: 4.406

2.  Spondylo-metaphyseal dysplasias (report of a case of common type and three pairs of siblings of new varieties).

Authors:  K Kozlowski; A Barylak; R W Middleton; M Rybakowa; P Thomas; J Walecki
Journal:  Australas Radiol       Date:  1976-06

3.  A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases.

Authors:  K Kozlowski; L Bacha; R Massen; M Ayati; S Sator; L Brahimi
Journal:  Pediatr Radiol       Date:  1988

4.  Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

Authors:  W A Horton; L O Langer; D L Collins; C Dwyer
Journal:  Am J Med Genet       Date:  1983-10

5.  Spondylometaphyseal dysplasia: further heterogeneity.

Authors:  Z Borochowitz; M Berant; H Kristal
Journal:  Skeletal Radiol       Date:  1988       Impact factor: 2.199

6.  Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.

Authors:  L O Langer; P W Brill; M B Ozonoff; R M Pauli; W G Wilson; B A Alford; H Pavlov; D G Drake
Journal:  Radiology       Date:  1990-06       Impact factor: 11.105

7.  Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of "new varities").

Authors:  K Kozlowski; B E Prokop; J S Scougall; M Silink; R H Vines
Journal:  Rofo       Date:  1979-02
  7 in total
  10 in total

1.  Growth plate injury of the long bones in treated beta-thalassemia.

Authors:  C Orzincolo; P N Scutellari; G Castaldi
Journal:  Skeletal Radiol       Date:  1992       Impact factor: 2.199

2.  Japanese type of spondylo-metaphyseal dysplasia.

Authors:  T Hasegawa; K Kozlowski; G Nishimura; H Hara; Y Hasegawa; T Aso; S Koto; T Nagai; Y Tsuchiya
Journal:  Pediatr Radiol       Date:  1994

3.  Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Authors:  G A Wallis; B Rash; B Sykes; J Bonaventure; P Maroteaux; B Zabel; R Wynne-Davies; M E Grant; R P Boot-Handford
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

4.  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

5.  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

6.  Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Authors:  S Ikegawa; G Nishimura; T Nagai; T Hasegawa; H Ohashi; Y Nakamura
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.

Authors:  Eyal Reinstein; Ericka B Okenfuss; Isha Wadhawan; Yael Wilnai; Melanie Manning; David L Rimoin; Ralph S Lachman
Journal:  J Appl Genet       Date:  2013-01-31       Impact factor: 3.240

8.  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

9.  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

10.  A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.

Authors:  Xianzuo Zhang; Haiyi Liang; Weilu Liu; Xu Li; Wenzhi Zhang; Xifu Shang
Journal:  Medicine (Baltimore)       Date:  2019-07       Impact factor: 1.817
  10 in total

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