Metaphyseal dyschondroplasia with cone-shaped epiphyses

A case of metaphyseal dyschondroplasia is reported with the unusual feature of cone-shaped epiphyses of the tibiae and bones of the hand. An 8-year-old boy (born June 1972) was admitted in 1980 having had bowed lower limbs since the age of 4 years. The child showed reduction in stature and weight but had normal mental development. The limbs and hands were short compared with the trunk. No visceral abnormality or alopecia was present. The bilateral genu varum and genu recurvatum were considered to be secondary to the abnormal length of both fibulae. Consequently, bilateral fibular resection was performed in December 1980 and the genu varum became stabilised. We saw the child for the first time in October 1984, when dwarfism was marked. His height was 1.08 m (− 7 SD) and his weight was 21.95 kg (− 3 SD) at an age of 12 years and 4 months. At birth his weight had been 2.95 kg and he measured 47 cm in length. He had suffered from no significant disease during childhood and, in particular, had not had meningoc...