A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

induce type II achondrogenesis-hydrochondrogenesis, spondyloepiphyseal dysplasia congenita, and Stickler syndrome, along with Kniest syndrome . 6-8) The clinical features of Kniest syndrome include a disproportionately short stature with a short, barrel-shaped chest, kyphoscoliosis, enlargement of joints with limited range of motion, a flat face with prominent eyes, low nasal bridge, myopia that may progress to retinal detachment, vitreoretinal degeneration, and cleft palate with frequent ear infection. Radiologic findings include short limbs often with bowing, broad metaphyses, dumbbell-shaped femurs, hypoplastic pelvic bones, platyspondyly, vertical clefts of the vertebrae, irregular and large epiphyses with late ossification, diffuse osteoporosis, cloud-like radio-densities, and narrow inter-vertebral disk spaces. Inguinal and umbilical hernias, hearing loss, recurrent A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele