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June 1972

Multiple Congenital Abnormalities: The Association of Seven Defects Including Multiple Exostoses, von Willebrand's Disease, and Bilateral Winged Scapula

Author Affiliations

Asbury Park, NJ

From the Department of Medicine, New York Medical College, New York.

Arch Intern Med. 1972;129(6):972-974. doi:10.1001/archinte.1972.00320060120016

Clinicians do not often diagnose multiple mutations, preferring to attribute congenital abnormalities to developmental problems or to the widespread effects of a single gene. Yet in lower forms, where genetic defects are easier to recognize, multiple mutations can occur for a variety of reasons. The purpose of this paper is to describe a patient with a group of unusual disorders and to develop the concept that multiple mutations can occur in humans.

Patient Summary  The patient, a 35-year-old woman, has been followed-up for five years because of swelling of the right hip and repeated abortions. Roentgenograms of her bones since childhood have repeatedly shown "tumors" and her shoulder blades have been prominent since birth. Since infancy she has had recurrent ecchymoses, and from the ages of 9 to 15 years she had repeated transient swelling of the left leg. She bled excessively after a tooth extraction when she was 10