| 单词 | Type C Cockayne Syndrome |
| 释义 | Type C Cockayne Syndrome《英文msh词典》Type C Cockayne Syndrome [入口词] Type C Cockayne Syndrome [主题词] Cockayne Syndrome [英文释义] An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes),growth failure,intellectual deterioration,loss of subcutaneous fat,pigmentary retinal degeneration,neural deafness,dwarfism,photosensitivity,optic atrophy,peripheral neuropathy,and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes,Textbook of Child Neurology,5th ed,p197) |
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