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Last Updated: 01/07/2026

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Found 205 publications

Posterior Spinal Fixation Using a Patient-Specific 3D-Printed Guide for a Sixth Thoracic Vertebral Fracture With Ankylosis and Severe Bone Sclerosis Due to Spondyloepiphyseal Dysplasia Congenita.

Posterior Spinal Fixation Using a Patient-Specific 3D-Printed Guide for a Sixth Thoracic Vertebral Fracture With Ankylosis and Severe Bone Sclerosis Due to Spondyloepiphyseal Dysplasia Congenita.

Journal: Cureus
Published: May 01, 2025

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Journal: Journal of clinical research in pediatric endocrinology
Published: January 24, 2025

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: November 25, 2024

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Journal: Orphanet journal of rare diseases
Published: September 25, 2024

Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report.

Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report.

Journal: A&A practice
Published: February 27, 2024

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

Journal: Spine deformity
Published: August 18, 2023

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

Journal: World journal of orthopedics
Published: August 14, 2023

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Journal: American journal of medical genetics. Part A
Published: August 07, 2023

COMBINED, NOVEL MANAGEMENT OF BILATERAL VARUS HIP DEFORMITY USING "EIGHT-PLATE" IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.

COMBINED, NOVEL MANAGEMENT OF BILATERAL VARUS HIP DEFORMITY USING "EIGHT-PLATE" IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.

Journal: Acta clinica Croatica
Published: August 01, 2023

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.

Journal: Calcified tissue international
Published: April 22, 2023

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.

Journal: Radiographics : a review publication of the Radiological Society of North America, Inc
Published: April 13, 2023

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.

Journal: International journal of biological sciences
Published: January 18, 2023
Showing 1-12 of 205

Last Updated: 01/07/2026