PROGERIA LIKE SYNDROMES
\pɹə͡ʊd͡ʒˈɛɹi͡ə lˈa͡ɪk sˈɪndɹə͡ʊmz], \pɹəʊdʒˈɛɹiə lˈaɪk sˈɪndɹəʊmz], \p_ɹ_əʊ_dʒ_ˈɛ_ɹ_iə l_ˈaɪ_k s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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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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Word of the day
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.