Literature DB >> 3368247

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

K Kozlowski1, L Bacha, R Massen, M Ayati, S Sator, L Brahimi.   

Abstract

A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia.

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Year:  1988        PMID: 3368247     DOI: 10.1007/bf02390399

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


  5 in total

1.  The spondylometaphyseal dysplasias. A tentative classification.

Authors:  P Maroteaux; J Spranger
Journal:  Pediatr Radiol       Date:  1991

2.  COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Authors:  S Matsubayashi; M Ikema; Y Ninomiya; K Yamaguchi; S Ikegawa; G Nishimura
Journal:  Mol Syndromol       Date:  2013-01-30

3.  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

4.  Spondylometaphyseal dysplasia, type VII.

Authors:  H B Diren; B Büyükgebiz; A Büyügebiz; T Pirnar
Journal:  Pediatr Radiol       Date:  1992

5.  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

  5 in total

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