GROUP C COCKAYNE SYNDROME
\ɡɹˈuːp sˈiː kˈɒke͡ɪn sˈɪndɹə͡ʊm], \ɡɹˈuːp sˈiː kˈɒkeɪn sˈɪndɹəʊm], \ɡ_ɹ_ˈuː_p s_ˈiː k_ˈɒ_k_eɪ_n s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
