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Skeletal dysplasia,intracerebral calcifications,optic atrophy,hearing impairment,and mental retardation: Nosology of dysosteosclerosis |
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| Authors: | David Chitayat Keneth Silver E. Michel Azouz |
| Abstract: | A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed. © 1992 Wiley-Liss, Inc. |
| Keywords: | autosomal recessive skin findings blindness mental retardation bone dysplasia bone density diaphyseal changes metaphyseal changes prenatal diagnosis carbonic anhydrase II deficiency Cockayne syndrome |