About 235 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  90 results

Treatment outcomes of hips in patients with epiphyseal dysplasia.
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 ...
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...
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...
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...

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Clinicaltrials.gov  1 results

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

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

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 →