Spondyloepiphyseal Dysplasia Congenita Latest Advances

Find the Latest Research About Spondyloepiphyseal Dysplasia Congenita

Last Updated: 09/26/2026

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Found 209 publications

Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review.

Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review.

Journal: The journal of obstetrics and gynaecology research
Published: May 12, 2026

Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Journal: Cureus
Published: February 16, 2026

Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.

Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.

Journal: Prenatal diagnosis
Published: January 30, 2026

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
Showing 1-12 of 209

Last Updated: 09/26/2026