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

TitleCorner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Publication TypeJournal Article
Year of Publication2017
AuthorsMachol, K, Jain, M, Almannai, M, Orand, T, Lu, JT, Tran, A, Chen, Y, Schlesinger, A, Gibbs, R, Bonafe, L, Campos-Xavier, ABelinda, Unger, S, Superti-Furga, A, Lee, BH, Campeau, PM, Burrage, LC
JournalAm J Med Genet A
Volume173
Issue3
Pagination733-739
Date Published2017 Mar
ISSN1552-4833
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.

DOI10.1002/ajmg.a.38059
Alternate JournalAm. J. Med. Genet. A
PubMed ID27888646
PubMed Central IDPMC5315610
Grant ListK08 DK106453 / DK / NIDDK NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
T32 GM007526 / GM / NIGMS NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
P30 HD024064 / HD / NICHD NIH HHS / United States
P01 HD070394 / HD / NICHD NIH HHS / United States