Results 21 to 30 of about 1,854 (192)
Spinal anesthesia in a patient with Schwartz–Jampel syndrome
JA Clinical Reports, 2020 Background Schwartz–Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation.
Osama Shaalan +4 more
doaj +1 more source
The skeleton and musculature on foetal MRI [PDF]
, 2011 Background Magnetic resonance imaging (MRI) is used as an adjunct to ultrasound in prenatal imaging, the latter being the standard technique in obstetrical medicine.
Ursula Nemec +7 more
core +1 more source
Genetic Disorders of Bone or Osteodystrophies of Jaws—A Review
Global Medical Genetics, 2021 Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins.
Sirisha Vammi +10 more
doaj +1 more source
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates [PDF]
, 2010 Background Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth.
Bassam R Ali +20 more
core +2 more sources
Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]
, 2020 Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan +6 more
core +1 more source
Subtractive gene expression profiling of articular cartilage and mesenchymal stem cells: serpins as cartilage-relevant differentiation markers [PDF]
, 2007 SummaryObjectiveMesenchymal stem cells (MSCs) are a population of cells broadly discussed to support cartilage repair. The differentiation of MSCs into articular chondrocytes is, however, still poorly understood on the molecular level.
Boeuf, S. +9 more
core +1 more source
Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome [PDF]
, 2022 Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a
Hayabuchi, Yasunobu +7 more
core +4 more sources
Journal of Anaesthesiology Clinical Pharmacology, 2013 Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till
Rudrashish Haldar +2 more
doaj +1 more source
The Egyptian Journal of Radiology and Nuclear Medicine, 2023 Background Osteopathia is a benign entity characterized by linear densities along the diaphysis and metaphysis of the longitudinal axes of the long bone.
Moinuddin Sultan +3 more
doaj +1 more source
Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review
Journal of Pediatrics Review, 2015 Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease.
Kobra Shiasi Arani
doaj +3 more sources