Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Détails

ID Serval
serval:BIB_B512148737EB
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
Institution
Titre
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Périodique
American journal of medical genetics. Part A
Auteur⸱e⸱s
Machol K., Jain M., Almannai M., Orand T., Lu J.T., Tran A., Chen Y., Schlesinger A., Gibbs R., Bonafe L., Campos-Xavier A.B., Unger S., Superti-Furga A., Lee B.H., Campeau P.M., Burrage L.C.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
03/2017
Peer-reviewed
Oui
Volume
173
Numéro
3
Pages
733-739
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. © 2016 Wiley Periodicals, Inc.

Pubmed
Web of science
Création de la notice
06/12/2016 18:55
Dernière modification de la notice
20/08/2019 15:23
Données d'usage