Related Experiment Videos
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
Summary
Thanatophoric dysplasia cases show prolonged survival with neonatal respiratory support and surgical interventions for hydrocephalus and posterior fossa decompression. Despite interventions, patients experienced severe developmental delay and growth failure.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Neonatology
Background:
- Thanatophoric dysplasia is a severe skeletal disorder typically associated with perinatal lethality.
- Respiratory distress is a common and life-threatening complication in neonates with thanatophoric dysplasia.
Observation:
- Two cases of thanatophoric dysplasia with prolonged survival are detailed.
- Both infants required ventilatory support due to severe respiratory distress in the neonatal period.
Findings:
- Both patients necessitated ventriculoperitoneal shunts for hydrocephalus management.
- Posterior fossa decompression was performed in both cases.
- Profound developmental delay and significant growth failure were characteristic throughout their survival.
Implications:
- This case series highlights potential survival beyond typical outcomes in thanatophoric dysplasia with intensive neonatal care.
- Aggressive management of complications like hydrocephalus and respiratory distress may influence survival duration.
- Long-term outcomes remain challenging, with severe neurodevelopmental deficits and growth impairment persisting.