[Spondylothoracic dysplasia--a case report of 2 affected sisters with 20 year follow-up]

This is a case report and review of the literature in spondylothoracic dysplasia. Spondylothoracic dysplasia is a genetically transmitted, rare entity characterized by multiple vertebral abnormalities and rib anomalies. Two siblings from one family of normal parents who have four other normal children were affected. There is no history of congenital anomalies in the family. Due to progressing deformity of the spine, a convex epiphyseodesis had to be performed in the oldest girl. The second girl, who has a healthy twin sister, was borne with an inperforated anus and a recto-vaginal fistula. An operation was performed at an early stage. Today, the mature patients are painfree and fully integrated in social life. Spondylothoracic dysplasia is discussed with regard to the hereditary nature, course, and prognosis on the basis of the pertinent literature.