Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

MONDO:0100527

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

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