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Up to: Thoracic malformation · Lethal congenital contracture syndrome · Short rib dysplasia
NEK9-related lethal skeletal dysplasia
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
This condition has no sub-types.