Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Definition
An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
Also known as Kozlowski-Tsuruta syndrome — per MONDO