Thoracopelvic Dysostosis

Clinical Features

Bankier and Danks (1983) introduced the designation thoracopelvic dysostosis in connection with a disorder they observed in mother and son. The latter had respiratory distress in the newborn period related to short ribs. The disorder did not fit into any previously described syndromes such as Ellis-van Creveld syndrome (225500), short rib-polydactyly syndromes, and asphyxiating thoracic dysplasia (see 208500). The mother was 151 cm tall with normal body proportions. The chest was bell-shaped in mother and son and the pelvis was radiologically very unusual in both. The small sciatic notches resulted in a restricted heart-shaped pelvic inlet necessitating that the mother have delivery by cesarean section. The hands, spine and skull were normal. The benign course of the respiratory problem in the son (and lack of such problems in the mother), the seemingly dominant inheritance, and the absence of renal problems distinguished the disorder from asphyxiating thoracic dysplasia. The authors suggested that the disorder reported in entry 187750 is also different because neonatal respiratory distress was not present. Burn et al. (1986) suggested that the kindred reported by Bankier and Danks (1983) may have Barnes syndrome (187760).

Inheritance

Bankier and Danks (1983) suggested that the inheritance pattern of thoracopelvic dysostosis is autosomal dominant.