《英文msh詞典》Type I Cockayne Syndrome
[入口詞] Type I Cockayne Syndrome
[主題詞] Cockayne Syndrome
[英文釋義] 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)