Leroy et al. (2004) described 2 families with a novel form of spondyloepiphyseal dysplasia tarda. The first family consisted of 4 brothers (3 affected), and the second family consisted of an affected brother and sister. Consanguinity in the ... Leroy et al. (2004) described 2 families with a novel form of spondyloepiphyseal dysplasia tarda. The first family consisted of 4 brothers (3 affected), and the second family consisted of an affected brother and sister. Consanguinity in the first family suggested autosomal recessive inheritance. Clinical features included late-onset, short-trunk type of short stature (height ranging from less than the 3rd percentile to the 50th percentile), abnormal spinal curvature (scoliosis, thoracic kyphosis, and lumbar hyperlordosis), and minor leg deformities. Spinal mobility was restricted, and knee pain developed in adolescence. Onset occurred in late childhood. Radiologically, skeletal abnormalities were limited mainly to the spine and proximal femora. The thoracic and lumbar vertebral bodies were flattened with anterior wedging in the thoracic spine. Irregularities of the upper and lower endplates became more conspicuous with age, and there was progressive narrowing of intervertebral spaces. The proximal femoral epiphyses were flattened. The femoral necks were broad, slightly short, and in the valgus position. Genu varum and genu valgum were described in 4 individuals.