A renal lesion in asphyxiating thoracic dysplasia

A boy with asphyxiating thoracic dysplasia was studied from age seven months until his death with congestive heart failure at age thirteen months. Aminoaciduria, phosphaturia, increased urate excretion, hyposthenuria, proteinuria, and metabolic acidosis were demonstrated at one year of age. Cardiopulmonary dysfunction and skeletal abnormalities were also studied during life. Cessation of linear growth, overgrowth of membranous bone with retardation of enchondral bone formation, and cartilaginous overgrowth of the chest were prominent findings. At autopsy, an unexpected hepatic fibrosis was discovered, along with renal and skeletal disorganization.