Spondyloepiphyseal Dysplasia Latest Advances

Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society

Published: October 27, 2025

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Journal: Clinical genetics

Published: July 11, 2025

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

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Journal: Nature communications

Published: April 30, 2024

Spondyloepiphyseal Dysplasia Latest Advances

Find the Latest Research About Spondyloepiphyseal Dysplasia

Spondyloepiphyseal dysplasia with secondary osteoarthritis: a rare cause of early degenerative arthropathy.

Spondyloepiphyseal dysplasia with secondary osteoarthritis: a rare cause of early degenerative arthropathy.

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.

Multiple Ossification Centers of the Pubic Bone as a Supportive Radiographic Feature for COL2A1-Related Congenital Spondyloepiphyseal Dysplasia.

Multiple Ossification Centers of the Pubic Bone as a Supportive Radiographic Feature for COL2A1-Related Congenital Spondyloepiphyseal Dysplasia.

Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene

Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene

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.

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

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.

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Outcomes of cranio-cervical junction and cervical tract treatment in children with spondyloepiphyseal dysplasia.

Outcomes of cranio-cervical junction and cervical tract treatment in children with spondyloepiphyseal dysplasia.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

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.

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.