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Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl
1Department of Pediatrics, Kanagawa Children's Medical Center, Yokohama, Japan.
The Japanese Journal of Human Genetics
|June 1, 1994
Insights
Surgical thoracic expansion successfully treated a young girl with asphyxiating thoracic dystrophy, resolving respiratory distress and enabling an active life. This intervention offers a positive outlook for children with this rare condition.
Area of Science:
- Pediatric Surgery
- Thoracic Surgery
- Medical Genetics
Background:
- Asphyxiating thoracic dystrophy presents a severe challenge in infants, often necessitating mechanical ventilation due to compromised respiratory function.
- Early and effective intervention is critical for improving outcomes in patients with this genetic skeletal disorder.
Abstract:
A 15-month-old girl under mechanical ventilation with asphyxiating thoracic dystrophy underwent surgical thoracic expansion according to the procedure of Todd et al. (1986). Now aged 4 years, she is free from respiratory distress, is of normal intelligence, and leads an active life.