Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.

Détails

ID Serval
serval:BIB_3CEE1B771650
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Périodique
Pediatric Radiology
Auteur⸱e⸱s
Unger S.L., Briggs M.D., Holden P., Zabel B., Ala-Kokko L., Paassilta P., Lohiniva J., Rimoin D.L., Lachman R.S., Cohn D.H.
ISSN
0301-0449 (Print)
ISSN-L
0301-0449
Statut éditorial
Publié
Date de publication
2001
Peer-reviewed
Oui
Volume
31
Numéro
1
Pages
10-18
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype.
Mots-clé
Adolescent, Child, Genotype, Humans, Male, Mutation, Osteochondrodysplasias/genetics, Osteochondrodysplasias/radiography
Pubmed
Web of science
Création de la notice
20/06/2015 12:02
Dernière modification de la notice
20/08/2019 13:33
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