Literature DB >> 1895320

Genochondromatosis.

M Le Merrer1, P Fressinger, P Maroteaux.   

Abstract

We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar cases confirm the uniqueness of this new entity. The chondrodysplasias with disorganised development of cartilage are far from being completely understood. Recently, several disorders within this group have been well defined, including metachondromatosis and spondyloenchondroplasia, but there still remain numerous clinical subgroups that are very difficult to classify.

Entities:  

Mesh:

Year:  1991        PMID: 1895320      PMCID: PMC1016962          DOI: 10.1136/jmg.28.7.485

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  [Heredity of osteochondromas].

Authors:  A ROSSBERG
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1959-01

2.  [Dyschondroplasia. Multiple chondromatosis of the skeleton].

Authors:  P MAROTEAUX; M LAMY
Journal:  Sem Hop       Date:  1960-01-18

3.  [Three cases of Ollier's disease in one family].

Authors:  M LAMY; M AUSSANNAIRE; M L JAMMET; C NEZELOF
Journal:  Bull Mem Soc Med Hop Paris       Date:  1954 Jan 29-Feb 5

4.  [Metachondromatosis].

Authors:  P Maroteaux
Journal:  Z Kinderheilkd       Date:  1971
  4 in total
  3 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

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.  Genochondromatosis II.

Authors:  K Kozlowski; J Jarrett
Journal:  Pediatr Radiol       Date:  1992
  3 in total

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