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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Author(s) -
Machol Keren,
Jain Mahim,
Almannai Mohammed,
Orand Thibault,
Lu James T.,
Tran Alyssa,
Chen Yuqing,
Schlesinger Alan,
Gibbs Richard,
Bonafe Luisa,
CamposXavier Ana Belinda,
Unger Sheila,
SupertiFurga Andrea,
Lee Brendan H.,
Campeau Philippe M.,
Burrage Lindsay C.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38059
Subject(s) - short stature , dysplasia , fracture (geology) , medicine , biology , pathology , paleontology
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.