A 52-year-old male with short stature due to short limbs, a cleft pala
te and subcutaneous calcification was described by Nance and Sweeney i
n 1970. His parents were consanguineous and two female sibs and two co
usins were said to be similarly affected, thus the authors proposed th
at this was a previously undescribed recessively inherited chondrodyst
rophy. We describe a patient with short stature due to short limbs, su
bcutaneous calcification, and a cleft palate with features similar to
those described by Nance and Sweeney.