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American Journal of Roentgenology, Vol 100, 27-39, Copyright © 1967 by American Roentgen Ray Society

SKELETAL CHANGES IN THE CORNELIA DE LANGE SYNDROME

FRED A. LEE M.D.1 and FREDERIC M. KENNY M.D.1

1 From the Departments of Radiology and Pediatrics, University of Pittsburgh, School of Medicine and the Children's Hospital, Pittsburgh, Pennsylvania

The major features of the Cornelia de Lange syndrome (CDLS) are briefly presented. Six new cases are reported with tabulation of their major clinical findings. The roentgenographic findings are described in detail.

The most consistent and diagnostic skeletal anomalies affect the upper extremities. These range in severity from gross hemimelia and phocomelia to only mild (leformities of the hands. Four of our 6 cases have hypoplasia and dorsal dislocation of the radial heads. All of the cases have hypoplasia of varying degree of the first metacarpal bone, and of the middle phalanx of the shortened incurved fifth finger. This combination of elbow and hand changes is the most frequent skeletal abnormality reported in the CDLS. The specificity and diagnostic usefulness of these changes are discussed.


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Copyright © 1967 by the American Roentgen Ray Society.