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Гіперостоз кортикальний генералізований (Hyperostosis corticalis generalisata)

ORPHA:3416· ICD-10 M85.2· Hyperostosis corticalis generalisata

Визначення(English summary)

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Adolescent, Childhood