Chitayat D, Silver K, Azouz E M
Department of Pediatrics, Centre for Human Genetics, Montreal, Quebec, Canada.
Am J Med Genet. 1992 Jun 1;43(3):517-23. doi: 10.1002/ajmg.1320430304.
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.
