Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
| Autor: | Mohammed Almannai, Alan E Schlesinger, Keren Machol, Richard A. Gibbs, Mahim Jain, Luisa Bonafé, Thibault Orand, Brendan Lee, Alyssa A. Tran, James T. Lu, Sheila Unger, Philippe M. Campeau, Lindsay C. Burrage, Yuqing Chen, Andrea Superti-Furga, Ana Belinda Campos-Xavier |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Genotype genetic structures Coxa vara Osteochondrodysplasias Short stature Article Diagnosis Differential 03 medical and health sciences Genetics Humans Medicine Exome Collagen Type II Alleles Genetic Association Studies Growth Disorders Genetics (clinical) Fracture type Bone Diseases Developmental Spondyloepimetaphyseal dysplasia business.industry High-Throughput Nucleotide Sequencing Infant Anatomy musculoskeletal system medicine.disease Radiography Tibial Fractures Phenotype 030104 developmental biology Amino Acid Substitution Spondylometaphyseal dysplasia Dysplasia Child Preschool Mutation Hip Joint medicine.symptom Mild platyspondyly business Metaphyseal abnormalities |
| Zdroj: | American Journal of Medical Genetics Part A. 173:733-739 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text