[Thanatophoric dwarfism. Pathogenesis of the respiratory insufficiency in this abnormality].
Report on a thanatophoric dwarfism, which is a variety of achondroplasia. New born children with this failure are not able to survive the first few days after birth. This early death is due to a cardiorespiratory deficiency as a consequence of the extremely short ribs but also of the abnormal cartilaginous growth in the wall of bronchi and bronchioles. In this present case of the thanatophoric dwarfism the question is discussed in how far the disorder of the bronchial cartilage is the basis of the respiratory distress.
D001980:Bronchi / Q000002:abnormalities / Q000473:pathology; D004392:Dwarfism / Q000150:complications* / Q000401:mortality / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000473:pathology
Thanatophorer Zwergwuchs. Zur Pathogenese der respiratorischen Insuffizienz dieser Fehlbildung