Thoracic dystrophy

Abstract

Thoracic dystrophy is a chondrodystrophy which chiefly affects the costochondral junctions and therefore the growth of the ribs, resulting in an extremely small and rigid chest cage. 32 infants with this condition have previously been described, of whom 20 died within the first 13 months of life as a result of the chest deformity. Two further infants with the characteristic deformity are described. The mother of one showed similar but less severe skeletal abnormalities; the other is the child of a first cousin marriage. Both died of asphyxia. Physiological and pathological studies in one case suggest that it may be possible, surgically, to enlarge the chest enough to support life until further growth of the ribs occurs.