Khalda S. Amr

Introduction Czech dysplasia (OMIM 609162), also known as spondyloepiphyseal dysplasia with metatarsal shortening (1), is an autosomal dominant type II collagenopathy characterized by early-onset progressive pseudorheumatoid, platyspondyly, brachydactyly of the third and fourth toes, and normal ocular anatomy and height. Initially referred to as Dominantly Inherited Psudorheumatic Arthritis, it was later named Czech dysplasia in 2004.

Introduction Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and increased susceptibility to fractures. Typical extraskeletal manifestations associated with the disorder include blue sclera, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, hearing impairment, and the presence of Wormian bones on skull radiographs (1).

ORIGINAL ARTICLE Dina El Dessouki and Khalda Amr contributed equally to this work. Abstract Progressive pseudorheumatoid dysplasia (PPRD), a rare autosomal recessive syndrome, is a type of skeletal dysplasia associated with pain, stiffness, swelling of multiple joints, and the absence of destructive changes. PPRD occurs due to loss of function pathogenic variants in WISP3 (CCN6) gene, located on chromosome 6q22.