Spondyloperipheral dysplasia short ulna
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We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD‐T), a rare skeletal dysplasia… Expand It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In… Expand Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive… Expand The term “spondyloperipheral dysplasia” (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as… Expand Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar… Expand Abstract We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial… Expand Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the… Expand We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and… Expand We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body… Expand