×
About 235 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  90 results

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...

Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging ...
https://doi.org/10.1016/j.clinimag.2022.03.019
Clinical Imaging; Bisht RU, Van Tassel DC et. al.

Apr 10th, 2022 - We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyl...

Different phenotypes of Schimke immuno-osseous dysplasia (SIOD) in two sisters with the...
https://doi.org/10.2174/1871530322666220223154028
Endocrine, Metabolic & Immune Disorders Drug Targets; Castellano-Martinez A, Acuñas-Soto S et. al.

Feb 26th, 2022 - Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by mutations in the SMARCAL1 gene. It is characterized by spondyloepiphyseal dysplasia, T-cell immunodeficiency, hypercromic nevi, hypercholesterolem...

Specific early signs and long-term follow-up findings of Progressive Pseudorheumatoid D...
https://doi.org/10.1093/rheumatology/keab926
Rheumatology (Oxford, England); Uludağ Alkaya D, Kasapçopur Ö et. al.

Dec 18th, 2021 - Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early signs and follow-up findings in forty-four Turkish PPRD patients. The patients with progre...

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 →