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October 1970

Dyschondrosteose: Mesomelic Dwarfism of Lwei and Weill

Author Affiliations

Gainesville, Fla; Philadelphia
From the departments of radiology and pediatrics, St. Christopher's Hospital for Children, Philadelphia (Dr. Kirkpatrick), and the Department of Radiology. University of Florida Hospital, Gainesville, Fla (Dr. Felman).

Am J Dis Child. 1970;120(4):329-331. doi:10.1001/archpedi.1970.02100090103009

Eight patients with bilateral Madelung's deformity were examined. All are short; less than the eighth percentile for their age. In seven, mesomelia occurred in both the upper and lower extremities. Dominant heredity is demonstrated in six, and in the other two the disease appears to have occurred sporadically. We believe case 1 through 7 represent examples of the syndrome of Leri and Weill, dyschondrosteose. The failure of patient 8 to pass the disease to her offspring suggests that it is either recessive or not a true example of dyschondrosteose. Five patients were unaware of their disease until discovered by physicians alert to this diagnosis. Two others were considered to have vitamin D resistant rickets, and another, Turner's syndrome. Sufficient numbers have now been reported to allow recognition of this group of abnormalities as a distinct syndrome.

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