Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type
Platyspondylic lethal skeletal dysplasia, Torrance type
Medical condition
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth.[1] People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis).
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As a result of these serious skeletal problems, many infants with platyspondylic lethal skeletal dysplasia, Torrance type are born prematurely, are stillborn, or die shortly after birth from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.