title: Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Keren
authors.initials: K
authors.lastname: Machol
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Mahim
authors.initials: M
authors.lastname: Jain
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Almannai
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Thibault
authors.initials: T
authors.lastname: Orand
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
authors.forename: James T
authors.initials: JT
authors.lastname: Lu
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Alyssa
authors.initials: A
authors.lastname: Tran
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Yuqing
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas.
authors.forename: Alan
authors.initials: A
authors.lastname: Schlesinger
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
authors.forename: Richard
authors.initials: R
authors.lastname: Gibbs
authors.affiliation: Centre for Molecular Diseases and Department of Pediatrics, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafe
authors.affiliation: Centre for Molecular Diseases and Department of Pediatrics, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
authors.forename: Ana Belinda
authors.initials: AB
authors.lastname: Campos-Xavier
authors.affiliation: Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.affiliation: Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Brendan H
authors.initials: BH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Campeau
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Lindsay C
authors.initials: LC
authors.lastname: Burrage
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics*; D003937:Diagnosis, Differential; D059472:Exome; D056726:Genetic Association Studies; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006621:Hip Joint / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D013978:Tibial Fractures / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D024043:Collagen Type II
keywords: COL2A1; Sutcliffe type; corner fracture; developmental coxa vara; skeletal dysplasia; spondylometaphyseal dysplasia