IN 1964 Maroteaux and Savart1 reported three instances of children surviving with a generalized, previously lethal, developmental abnormality of bone called the thoracic asphyxiant dystrophy (TAD). This condition was first described and named by Jeune et al in 1954.2 Their patients died at early ages due to respiratory insufficiency. The hallmarks of the dystrophy are extreme constriction of the thorax and short-limbed dwarfism with abnormalities of the bone in the pelvis and extremities. Associated abnormalities reported are polydactyly and dental anomalies (Table).
We have collected data on three patients with this dystrophy. Our experience illustrates the spectrum of clinical and radiological manifestations, emphasizes associated renal disease, includes pulmonary function data, and documents the survival of one patient to an advanced age. From our own experience and from information provided to us, it is clear that renal failure is a significant hazard in patients with TAD.
Report of Cases
Herdman RC, Langer LO. The Thoracic Asphyxiant Dystrophy and Renal Disease. Am J Dis Child. 1968;116(2):192-201. doi:10.1001/archpedi.1968.02100020194014