Results 31 to 40 of about 1,547 (171)
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
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination. [PDF]
Congenit Anom (Kyoto)Abstract The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X‐ray examination revealed significant abnormalities, including skeletal malformations with prominent TD‐1 femur ...
Abba Deka I +5 more
europepmc +2 more sources
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
Inflammatory arthritis in children with osteochondrodysplasias [PDF]
Annals of the Rheumatic Diseases, 2000 Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Patients with these diseases commonly develop an early degenerative arthritis or osteoarthritis. Occasional observations of inflammatory arthritis have been made in this population but such observations are based on clinical grounds alone without confirmatory imaging ...
R, Scuccimarri +4 more
openaire +2 more sources
Straightened Small Pinnae in TRPV4 c.1024G>T Heterozygous Cats
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT The folded‐ear phenotype of Scottish Fold cats results from a dominant variant of the TRPV4 gene (c.1024G>T). Producing homozygous individuals is discouraged due to severe osteochondrodysplasia and identifying heterozygous carriers is critical for breeding.
Yuki Matsumoto +7 more
wiley +1 more source
Rare case of nephrotic syndrome: Schimke syndrome
Brazilian Journal of NephrologySchimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia.
Anna Kelly Krislane de Vasconcelos Pedrosa +5 more
doaj +1 more source
Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]
Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018 La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate +2 more
doaj +1 more source