—To the dozen autopsy studies in cases of the Klippel-Feil syndrome Scriba and Gmelin1 add 1 case in which Sprengel's deformity was also present, as well as a congenital malformation of the heart. The cardiac lesion was the cause of death. The authors point out that anomalies frequently associated with the vertebral synostosis which characterizes the Klippel-Feil syndrome are spina bifida occulta and coordinated malformations such as congenital elevation of the scapula and anomalies of the rib. Associated malformations of the central nervous system, of the gastrointestinal tract or of the heart and the great vessels are seldom seen. In this case both lesions were typical malformations resulting from interference with normal development at some stage. No familial history of either deformity was obtainable, although reports of other cases have demonstrated the existence of a tendency to inheritance of such lesions.
Phocomelus and Absence of
KUHNS JG, ROBERTS SM, JOPLIN RJ, ELLISTON WA, ILFELD FW, FREIBERG JA, M JE, STIRLING R. SIXTY-SIXTH REPORT OF PROGRESS IN ORTHOPEDIC SURGERY. Arch Surg. 1938;37(2):333-352. doi:10.1001/archsurg.1938.01200020161013