Literature DB >> 8465851

Dysspondylochondromatosis.

P Freisinger1, G Finidori, P Maroteaux.   

Abstract

We report on 3 unrelated patients with an unusual form of neonatal dwarfism with unequal limb length. Radiographs show multiple enchondromatosis of the tubular and the flat bones and severe segmentation abnormalities of the vertebral column. These observations differ from the hitherto described forms of multiple enchondromatosis with growth disorders of the spine, spondyloenchondroplasia, and others. Therefore we propose to delineate this disorder as a new entity.

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Mesh:

Year:  1993        PMID: 8465851     DOI: 10.1002/ajmg.1320450413

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


  7 in total

1.  Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2012-09-30       Impact factor: 3.134

2.  Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.

Authors:  Nilay Güneş; Gözde Yeşil; Kubilay Beng; Sinan Kahraman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2018-04-24

Review 3.  Enchondromatosis: insights on the different subtypes.

Authors:  Twinkal C Pansuriya; Herman M Kroon; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2010-06-26

4.  Achondroplasia and enchondromatosis in a female child.

Authors:  T Nizankowska-Blaz; S Wisz; K Kozlowski
Journal:  Skeletal Radiol       Date:  2003-05-28       Impact factor: 2.199

5.  Dysspondyloenchondromatosis in the newborn. Report of four cases.

Authors:  K Kozlowski; K Brostrom; J Kennedy; H Lange; L Morris
Journal:  Pediatr Radiol       Date:  1994

6.  Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Authors:  T Nakane; T Tando; K Aoyagi; K Hatakeyama; G Nishimura; I P J Coucke; G Mortier; K Sugita
Journal:  Mol Syndromol       Date:  2011-10-18

7.  Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Rudolf Ganger; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2013-03-28
  7 in total

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