Results 11 to 20 of about 406,691 (285)
A novel FLNA variant in a fetus with skeletal dysplasia
Human Genome Variation, 2022 Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA.
Kyoko Oshina +7 more
doaj +2 more sources
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making ...
Ravi Savarirayan +14 more
doaj +2 more sources
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain [PDF]
BMC Bioinformatics, 2012 Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological ...
Groza Tudor, Hunter Jane, Zankl Andreas
doaj +2 more sources
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. [PDF]
PLoS ONE, 2015 Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities,
Eun Jin Woo +3 more
doaj +4 more sources
Thanatophoric Skeletal Dysplasia: A Case Report
Journal of Nepal Medical Association, 2020 Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum +2 more
doaj +2 more sources
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects [PDF]
Nature Communications, 2018 The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia ...
Johanne Dubail +23 more
doaj +2 more sources
Oxandrolone therapy in skeletal dysplasia
The Turkish journal of pediatrics, 1993 Three patients with short stature and different forms of skeletal dysplasia were treated with oxandrolone, 1.25 mg/day. All patients had a normal growth hormone response (10 ng/ml) to the insulin-induced hypoglycemia test (ITT).
A Büyükgebiz, I Kovanlikaya
core +4 more sources
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
Case Reports in Endocrinology, 2018 Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B.
Marianne Jacob +3 more
doaj +2 more sources
Genetics in Medicine, 2010 The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah, Krakow, David L, Rimoin
openaire +2 more sources
Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments
, 2023 Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems.
Packer, Nicolle H +5 more
core +1 more source