2024/5/28 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...
2024/5/14 -Definition. Congenital disorder characterized by stature retardation, micromelia, clubfoot, postnatal scoliosis, joint stiffness, and ear pinna abnormalities.
2024/5/28 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.
2024/6/16 -In this study, we investigated a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac breed of beef cattle. Results Detailed ...
2024/6/17 -Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata. Observational study of gene-disease association. (HuGE Navigator); Functional ...
2024/6/1 -MR images. A, Axial T1-weighted image of the basal ganglia shows small delivery-related hemorrhage over the temporal convexity and bilateral areas (arrows) of ...
2024/6/7 -There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are: severe rhizomelic limb shortening. bowed ...
2024/6/15 -Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case ...
2024/4/20 -Rhizomelic chondrodysplasia punctata: This has multiple genetic subtypes that are clinically indistinguishable, but there is still a great deal of ...
2024/6/4 -Shortening of the proximal limbs (called rhizomelic shortening); Short fingers and toes, with "trident hands" (short hands with stubby fingers, and a ...
Short-limb skeletal dysplasia...-Skull bossing-Ancon sheep-Spermatogenesis