Spondyloepiphyseal dysplasia tarda: a report of four cases in two families

The clinical and radiological features of this form of shorttrunked dwarfism are discussed with special reference to four affected males studied from two unrelated families. The distinction of this disorder from other forms of spon-dylo-epiphyseal dysplasia and from Morquio-Brailsford's disease is of particular importance in view of the relatively benign course of spondylo-epiphyseal dysplasia tarda and the absence of extra-skeletal manifestions. Recognition of the sex-linked recessive mode of inheritance is essential for correct genetic counselling.