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Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

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

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
2
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
3
Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas.
4
Centre for Molecular Diseases and Department of Pediatrics, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
5
Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
6
Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.

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.

KEYWORDS:

COL2A1; Sutcliffe type; corner fracture; developmental coxa vara; skeletal dysplasia; spondylometaphyseal dysplasia

PMID:
27888646
PMCID:
PMC5315610
DOI:
10.1002/ajmg.a.38059
[Indexed for MEDLINE]
Free PMC Article

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