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craniodiaphyseal dysplasia : ウィキペディア英語版 | craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can also decrease the hole in the cervical spinal canal. In the few cases recorded, most of the sufferers died in childhood. The underlying genetics are uncertain. ==Diagnosis== Among the medical signs are dacryocystitis, seizures, intellectual disability, and paralysis, each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been a difference of the size of the eyes.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「craniodiaphyseal dysplasia」の詳細全文を読む
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