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The second report of Knobloch syndrome
A E Czeizel1, P Göblyös, G Kustos
1Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
American Journal of Medical Genetics
|April 1, 1992
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.