TY - JOUR
T1 - Corner fracture type spondylometaphyseal dysplasia
T2 - Overlap with type II collagenopathies
AU - Machol, Keren
AU - Jain, Mahim
AU - Almannai, Mohammed
AU - Orand, Thibault
AU - Lu, James T.
AU - Tran, Alyssa
AU - Chen, Yuqing
AU - Schlesinger, Alan
AU - Gibbs, Richard
AU - Bonafe, Luisa
AU - Campos-Xavier, Ana Belinda
AU - Unger, Sheila
AU - Superti-Furga, Andrea
AU - Lee, Brendan H.
AU - Campeau, Philippe M.
AU - Burrage, Lindsay C.
N1 - Publisher Copyright:
© 2016 Wiley Periodicals, Inc.
PY - 2017/3/1
Y1 - 2017/3/1
N2 - 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.
AB - 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.
KW - COL2A1
KW - corner fracture
KW - developmental coxa vara
KW - skeletal dysplasia
KW - spondylometaphyseal dysplasia
KW - Sutcliffe type
UR - https://www.scopus.com/pages/publications/85013167691
U2 - 10.1002/ajmg.a.38059
DO - 10.1002/ajmg.a.38059
M3 - Article
C2 - 27888646
AN - SCOPUS:85013167691
SN - 1552-4825
VL - 173
SP - 733
EP - 739
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -