2024/10/14 -Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies.
2024/9/27 -Rhizomelic dwarfism is a type of dwarfism in which the dominant feature is proximal (i.e. femoral and humeral) limb shortening. On this page:.
2024/5/14 -Definition. Congenital disorder characterized by stature retardation, micromelia, clubfoot, postnatal scoliosis, joint stiffness, and ear pinna abnormalities.
2024/8/13 -The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The ...
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 ...
2024/10/14 -Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of ...
2024/8/21 -Pathology. Subtypes. Chondrodysplasia punctata can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic chondrodysplasia punctata (RCDP).
2024/10/31 -Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia ...
2024/10/22 -Clinical characteristics of RCDP include the shortening of limbs (rhizomelia), premature calcifications of the epiphyseal cartilage, microcephaly, facial ...
2024/10/10 -Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1. the sequential formation of a highly stable trimeric complex involving ...