Infantile thoracic dystrophy is a familial disease with autosomal recessive inheritance. It is most frequently confused with Ellis-van Creveld's syndrome, though certain findings help to differentiate these two entities. Early diagnosis of these cases seems to be of great importance, because by proper management of pulmonary complications which commonly occur during infancy, there is a good chance of survival, and once past this period the symptoms improve steadily. Certain other clinical and x-ray findings, especially the extremely narrow chest that is commonly seen in these patients, are also of great diagnostic value, even at birth.