Results 1 to 10 of about 1,610 (176)
Genetics and Molecular Biology, 1998 Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families.
Marcial Francis Galera +4 more
doaj +2 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
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Journal of Family Medicine and Primary Care, 2022 Objective: To determine the frequency of skeletal dysplasia in children with short stature presenting to the endocrine clinic of a tertiary care hospital.
Seema +3 more
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Pseudoachondroplasia: A case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2013 Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity
Radlović Vladimir +6 more
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Genetics and Molecular Biology, 2015 Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face ...
Eduardo P. Mattos +7 more
doaj +1 more source
Hip sonography: thirty-four years of experience in Italy [PDF]
Exploration of Musculoskeletal DiseasesThis paper provides a review of the years of experience of hip sonography since the first ultrasound (US) course in Italy in 1987. Clinical and US findings were correlated in 1,000 newborns examined consecutively in a study in 1991.
Maurizio De Pellegrin +3 more
doaj +1 more source
What is new in genetics and osteogenesis imperfecta classification?
Jornal de Pediatria (Versão em Português), 2014 Objective: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. Sources: Literature review in the PubMed and OMIM databases, followed by selection of relevant references.
Eugênia R. Valadares +4 more
doaj +3 more sources
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
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
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