2024/2/28 -Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, and ...
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.
2024/6/11 -We reported a prenatal case of rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene, which emphasized the important role of ...
2024/2/6 -Pathology. Subtypes. Chondrodysplasia punctata can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic chondrodysplasia punctata (RCDP).
2024/5/28 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.
2024/1/29 -Patients present with rhizomelic dwarfism, lumbar and foramen magnum stenosis, frontal bossing, and normal intelligence. Diagnosis is usually made based on ...
2024/3/21 -Rhizomelic Chondrodysplasia Punctata. Symptoms of rhizomelic chondrodysplasia punctata begin in infancy and include a sunken appearance of the middle of the ...
2024/6/7 -There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are: severe rhizomelic limb shortening. bowed ...
2024/6/17 -Conclusions We report the first spontaneous large animal model of rhizomelic chondrodysplasia punctata and provide both a diagnostic test to counter-select this ...