Literature DB >> 3999058

[Spondylo-enchondrodysplasia].

S Chagnon, P Lacert, M Blery.   

Abstract

A case is reported of spondyloenchondrodysplasia associating platyspondylia and generalized enchondromatosis, affecting the spine also but absent in the extremities. A literature review enabled this entity to be grouped within the framework of other enchondroplasias with vertebral lesions. Radiologic signs and genetic data suggest heterogeneity of this group of affections.

Entities:  

Mesh：

Year:  1985        PMID： 3999058

Source DB:  PubMed          Journal:  J Radiol        ISSN： 0221-0363


  5 in total

1.  Spondyloenchondrodysplasia.

Authors:  H Menger; K Kruse; J Spranger
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 2.  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

3.  Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes.

Authors:  E M Azouz
Journal:  Skeletal Radiol       Date:  1987       Impact factor: 2.199

4.  A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Authors:  Takanori Utsumi; Satoshi Okada; Kazushi Izawa; Yoshitaka Honda; Gen Nishimura; Ryuta Nishikomori; Rika Okano; Masao Kobayashi
Journal:  Front Endocrinol (Lausanne)       Date:  2017-07-10       Impact factor: 5.555

5.  Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Authors:  Tracy A Briggs; Gillian I Rice; Navid Adib; Lesley Ades; Stephane Barete; Kannan Baskar; Veronique Baudouin; Ayse N Cebeci; Philippe Clapuyt; David Coman; Lien De Somer; Yael Finezilber; Moshe Frydman; Ayla Guven; Sébastien Heritier; Daniela Karall; Muralidhar L Kulkarni; Pierre Lebon; David Levitt; Martine Le Merrer; Agnes Linglart; John H Livingston; Vincent Navarro; Ericka Okenfuss; Anne Puel; Nicole Revencu; Sabine Scholl-Bürgi; Marina Vivarelli; Carine Wouters; Brigitte Bader-Meunier; Yanick J Crow
Journal:  J Clin Immunol       Date:  2016-03-08       Impact factor: 8.317
  5 in total

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