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Generalized Overconstriction of Long Bones and Unilateral Kirner's Deformity in a deLange Dwarf

Fred A. Lee, MD
Am J Dis Child. 1968;116(6):599-603. doi:10.1001/archpedi.1968.02100020603005.
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THE Cornelia deLange syndrome (CD LS) is a distinctive clinical entity characterized by severe growth, mental and motor retardation, a characteristic appearance, and multiple associated anomalies including deformities of the skeleton. Described by Cornelia deLange1 in 1931, it did not receive attention in this country until 1962 when the first reference in an English language publication appeared.2 Since then, increasing numbers of cases have been reported, including a series of 20 cases from one institution alone.3

We4 recently described the radiographic findings in skeletal surveys of six CDL dwarfs. Gerald and Umansky,5 and Kurlander and DeMyer6 similarly reported the skeletal changes in seven other cases. In summary, the major skeletal abnormalities are of the upper extremity, and range in severity from phocomelia and hemimelia to minor hand defects. The most consistent changes have been hypoplasia of the first metacarpal bone, clinodactyly of the fifth finger, and hypoplasia and subluxation


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