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Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
rareAn 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.
- Identifiers
- MONDO:0100527 Orphanet:2204
- Part of
- Dysplastic cortical hyperostosis
- Also known as
- Kozlowski-Tsuruta syndrome
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