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logical findings: a round and flat facies with a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum and small chin. A rhizomelic shortening and radial head dislocation that leads to a characteristic limited extension of the elbows are observed. They also present a short and broad chest, widely spaced nipples and, in males, criptorchidism is frequent. Mental retardation was reported in four patients and delayed motor development occurred in a few cases. Skeletal findings are confined to the limbs with shortened humeri with hypoplastic condyles and axial rotation of their shafts. At birth, radius and ulna are short and thick, but straighten with age. Likewise, in newborns, the humerus is shorter than the radius, but with age it becomes longer. The radial head is anteriorly and laterally dislocated, the ulna is abnormally placed resulting in a radioulnar diastasis. Femora show bulky proximal ends and a distal hypoplasia, remaining relatively short with age, but the distal tapering decreases due to metaphyseal widening and decreasing outward rotation of the femoral shafts. The tibia and fibulae are moderately short and the epiphyseal ossification centers of the femora and tibiae are strikingly flat.