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.
Felman AH, Kirkpatrick JA. DyschondrosteoseMesomelic Dwarfism of Lwei and Weill. Am J Dis Child. 1970;120(4):329–331. doi:10.1001/archpedi.1970.02100090103009