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Х-зчеплений гіперостоз пяткової кістки

ORPHA:391327· ICD-10 M85.2· X-linked calvarial hyperostosis

Визначення(English summary)

A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.

Поширеність
<1 / 1 000 000
Успадкування
X-linked recessive
Вік початку
Infancy, Neonatal