Thoracomelic Dysplasia

Rivera et al. (1988) reported an apparently 'new' form of thoracomelic dysplasia in 2 children, a brother and sister of consanguineous parents. The salient features were bell-shaped thorax owing to short ribs, short-limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulas, and improvement with age. Distinguishing the disorder from Jeune syndrome (208500) were the different thoracic configuration, lack of neonatal respiratory distress, and absence of acetabular spurs in infancy and of phalangeal cone-shaped epiphyses in childhood.