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

Details

Serval ID
serval:BIB_B512148737EB
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Journal
American journal of medical genetics. Part A
Author(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
Publication state
Published
Issued date
03/2017
Peer-reviewed
Oui
Volume
173
Number
3
Pages
733-739
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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
Create date
06/12/2016 18:55
Last modification date
20/08/2019 15:23
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