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Диспластичний кортикальний гіперостоз, тип Козловського-Цурути

ORPHA:2204· ICD-10 M89.8· Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Визначення(English summary)

Dysplastic cortical hyperostosis is 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.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal