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Growth and development in thanatophoric dysplasia
I M MacDonald1, A G Hunter, P M MacLeod
1Department of Ophthalmology, Childrens' Hospital of Eastern Ontario, Ottawa, Canada.
American Journal of Medical Genetics
|August 1, 1989
Abstract:
Two cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profound developmental delay and dramatic growth failure.