2024/2/28 -Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, and ...
2024/5/14 -Definition. Congenital disorder characterized by stature retardation, micromelia, clubfoot, postnatal scoliosis, joint stiffness, and ear pinna abnormalities.
2024/7/11 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...
2024/2/6 -Pathology. Subtypes. Chondrodysplasia punctata can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic chondrodysplasia punctata (RCDP).
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 ...
2024/3/21 -Rhizomelic Chondrodysplasia Punctata. Symptoms of rhizomelic chondrodysplasia punctata begin in infancy and include a sunken appearance of the middle of the ...
2024/7/11 -A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae ...
2024/7/1 -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 ...
2024/3/21 -Rhizomelic Chondrodysplasia Punctata|; X-Linked Adrenoleukodystrophy (ALD)|; Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy, and Infantile Refsum ...