1. a boy born in 1975, was the only sib of case 1. After an uncomplicated pregnancy he was born at term with a birth weight of 2500 g. Short limbs were noted immediately. At nine years (fig 1) he measured 100 cm (-6 SD) (fig 2) and weighed 21-3 kg. His arm span was 94 cm, his upper segment/ lower segment ratio 1-5 (+9 SD), and his OFC 51*5 cm (normal in relation to body length). His physical appearance (fig 1) and laboratory and radiographical findings (figs 3c, Sb, 6c) were similar to those of his brother;J.P.
2. UP was a boy born in 1972 to parent aged 23 and 20 years. They and two younger sibs were healthy. Birth length was 51 cm and weight 3100 g. When he was four months old severe craniotabes and mild costochondral beading were noticed and a diagnosis of rickets was made, in spite of normal serum
3. a boy born in 1966, was probably the incestuous product of a father-daughter union. At his birth his parents were 17 and 40 years old; they and a younger sister were reportedly healthy. Pregnancy was said to be normal but birth was complicated by premature rupture of the membranes and umbilical cord strangulation possibly causing perinatal asphyxia. Birth length was 50 cm and weight 2550 g. He learned to walk and speak at three years of age;A.S.
4. Schorr S, Legum C, Ochshorn M. Spondyloenchondrodysplasia. Radiology 1976;118:133-9.
5. Chondromes multiples avec atteinte rachidienne. Spondylo-enchondroplasie et autres formes;Sauvegrain, J.; Maroteaux, P.; Ribier, J.;J Radiol,1980