Adès L C, Morris L L, Burns R, Haan E A
Department of Medical Genetics and Epidemiology, Women's and Children's Hospital (Adelaide Children's Hospital Division), South Australia.
Am J Med Genet. 1994 May 15;51(1):46-50. doi: 10.1002/ajmg.1320510111.
We present the first Australian family known with autosomal dominant endosteal hyperostosis affecting a mother and her 2 children. Neurological involvement comprising chronic intracranial hypertension and cranial nerve palsies were found in the mother; computerised tomography and magnetic resonance imaging of the head demonstrated symmetrical sclerosis of the cranial vault, narrow internal auditory meati and canals, inferior herniation of the cerebellar tonsils into the foramen magnum, and encroachment of occipital bone into the foramen magnum posteriorly. This is the fifth report of significant neurologic involvement in this condition and supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show progression with neurological involvement in adulthood.
