The second report of Knobloch syndrome. |
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| Authors: | A E Czeizel P G?bly?s G Kustos E Mester E Paraicz |
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| Affiliation: | Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary. |
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| Abstract: | ![]()
Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described. |
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