Cataract in early onset and classic Cockayne syndrome
作者： Rosane C. Ferreira , Elizabeth R. Roeder , J. Bronwyn Bateman
DOI: 10.3109/13816819709041434
关键词: Pediatrics 、 Glaucoma 、 Intrauterine growth failure 、 Early onset 、 Pigmentary Retinopathy 、 First year of life 、 Cataracts 、 Low birth weight 、 Medicine 、 Surgery 、 Cockayne syndrome
摘要: Purpose: To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an after the first year of life; intrauterine growth failure severe neurologic dysfunction from birth distinguishes less common form. Methods: A complete ophthalmic evaluation was performed four affected patients, one with three c s. Results: We report cataract all patients glaucoma one, latter never previously reported CS. Conclusion: should be considered babies low weight congenital cataract.
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Pearce Wg, Ocular and genetic features of Cockayne's syndrome. Canadian Journal of Ophthalmology-journal Canadien D Ophtalmologie. ,vol. 7, pp. 435- 444 ,(1972)
R. B. Lowry, John M. Opitz, Early onset of Cockayne syndrome. American Journal of Medical Genetics. ,vol. 13, pp. 209- 210 ,(1982) , 10.1002/AJMG.1320130211
D. F. P. Larkin, H. N. O'donoghue, Developmental glaucoma in oculocutaneous albinism. OPHTHALMIC PAED GEN , 9 (1) 1 - 4. (1988). ,vol. 9, pp. 1- 4 ,(1988) , 10.3109/13816818809031472
Masaharu Hayashi, Keiko Hayakawa, Fujihiko Suzuki, Katsuo Sugita, Junichi Satoh, Yoshio Morimatsu, A neuropathological study of early onset cockayne syndrome with chromosomal anomaly 47XXX Brain and Development. ,vol. 14, pp. 63- 67 ,(1992) , 10.1016/S0387-7604(12)80282-8
E. A. Cockayne, Dwarfism with retinal atrophy and deafness. Archives of Disease in Childhood. ,vol. 11, pp. 1- 8 ,(1936) , 10.1136/ADC.11.61.1
Jaak Jacken, Helmut Klocker, Helga Schwaiger, Romuald Bellmann, Monica Hirsch-Kauffmann, Manfred Schweiger, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome Human Genetics. ,vol. 83, pp. 339- 346 ,(1989) , 10.1007/BF00291378
Gerald I. Sugarman, Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne's syndrome. The Journal of Pediatrics. ,vol. 82, pp. 351- ,(1973) , 10.1016/S0022-3476(73)80198-2
M A Patton, F Giannelli, A J Francis, M Baraitser, B Harding, A J Williams, Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. Journal of Medical Genetics. ,vol. 26, pp. 154- 159 ,(1989) , 10.1136/JMG.26.3.154
Katsuo Sugita, Junnichi Takanashi, Nobuo Suzuki, Hiroo Niimi, Comparison of cellular sensitivity to UV killing with neuropsychological impairment in Cockayne syndrome patients. Brain & Development. ,vol. 13, pp. 163- 166 ,(1991) , 10.1016/S0387-7604(12)80023-4
William H. Coles, Ocular Manifestations of Cockayne's Syndrome American Journal of Ophthalmology. ,vol. 67, pp. 762- 764 ,(1969) , 10.1016/S0002-9394(69)91006-X