×
About 275 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  106 results

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9745931
BMC Musculoskeletal Disorders; Chen Z, Zhang Z et. al.

Dec 14th, 2022 - Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary, X-linked skeletal disorder. To our knowledge, there are few reports about orthopedic surgery in these patients. This is the first report on patients with SEDT undergoing spinal and f...

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426025
BMC Musculoskeletal Disorders; Kausar M, Ain NU et. al.

Aug 31st, 2022 - Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphys...

Atlantoaxial Instability
https://emedicine.medscape.com/article/1265682-overview

Jun 6th, 2022 - Practice Essentials Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or a ligamentous abnormality. [1] Neurologic symptoms can occur when the sp...

Atlantoaxial Instability
http://emedicine.medscape.com/article/1265682-overview

Jun 6th, 2022 - Practice Essentials Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or a ligamentous abnormality. [1] Neurologic symptoms can occur when the sp...

Atlantoaxial Instability
https://emedicine.medscape.com/article/1265682-print

Jun 6th, 2022 - Practice Essentials Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or a ligamentous abnormality.[1] Neurologic symptoms can occur when the spi...

see more →

Clinicaltrials.gov  1 results

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
https://clinicaltrials.gov/ct2/show/NCT01707433

Aug 4th, 2015 - BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfata...

see more →

News  1 results

Exploring the Genetic Link to Premature Osteoarthritis
https://www.medscape.com/viewarticle/722912

Jun 9th, 2010 - Premature Arthritis Is a Distinct Type II Collagen Phenotype Kannu P, Bateman JF, Randle S, et al Arthritis Rheum. 2010;62:1421-1430 Introduction Osteoarthritis (OA) is extremely common, leading to significant morbidity. Some forms of OA are more ...

see more →

Patient Education  2 results see all →