Asphyxiating Thoracic Chondrodystrophy Association with Renal Disease and Evidence for Possible Heterozygous Expression

Asphyxiating thoracic dystrophy of the newborn is a rare skeletal abnormality. Though the disease is generalized in distribution, the cartilaginous thoracic cage bears the brunt, with the results that the chest is narrow and immobile. The outcome is usually fatal early in the neonatal period. Less frequently the patients survive with severely impaired respiratory function only to succumb to repeated and ultimately fatal respiratory infections. The entity was first described by Jeune et al. (1954) who observed it in two sibs. Subsequently, nine more cases were reported in the European literature (de Sario and Marchese, 1956; Balocco and Zoratto, 1960; Neimann et al., 1963; Maroteaux and Savart, 1964; Fontan et al., 1965). Only recently has the entity been observed by American investigators; Pirnar and Neuhauser (1966) published the first report of the condition in the English language literature. The clinical and radiological features were comprehensively reviewed by Hanissian, Riggs, and Thomas (1967) and Langer (1968). The familial distribution has been noted and autosomal recessive inheritance suggested. In this paper we present a large pedigree with five subjects either affected or reputed to be affected with this syndrome.