Results 21 to 30 of about 1,547 (171)
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
doaj +1 more source
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
doaj +1 more source
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders. [PDF]
Acta PaediatrABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Zhan S +8 more
europepmc +2 more sources
Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature. [PDF]
Adv Genet (Hoboken)The current study describes a novel type of brachydactyly, characterized by absent phalanges in the toes. Whole genome sequencing identified rare missense variants in the BMP8A and FGFR1 genes, both of which are known to play a role in bone development. Bioinformatic and protein network analysis support their involvement in bone deformities.
Hunter L, Ilyas M.
europepmc +2 more sources
Mortality of congenital osteochondrodysplasias: A nationwide registry‐based study
American Journal of Medical Genetics, Part A, 2013 Antonio Morales-Piga +2 more
exaly +2 more sources
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
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
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
Ischiofemoral impingement due to a solitary exostosis
Journal of the Belgian Society of Radiology, 2015 Ischiofemoral impingement is a rare cause of hip pain related to narrowing of the space between the ischial tuberosity and the lesser trochanter. It is usually seen in middle-aged women.
J. Schatteman +3 more
doaj +1 more source