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About 273 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  105 results

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...

Treatment outcomes of hips in patients with epiphyseal dysplasia.
https://doi.org/10.1097/BPB.0000000000000982
Journal of Pediatric Orthopedics. Part B; Lindgren AM, Bomar JD et. al.

May 4th, 2022 - Hip containment surgeries in multiple epiphyseal and spondyloepiphyseal dysplasia (MED/SED) patients aim to improve the mechanical environment of the hip joint. The purpose of this study was to determine if surgical intervention to improve femoral...

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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...

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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 ...

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Patient Education  2 results see all →