The Antenatal Diagnosis of Skeletal Dysplasias: A Simplified Approach

Lethal Dysplaslas Thanatophoric dwarfism for example has a prevalence of 1110,000, and is the most commonly encountered dysplasia [12]. It is characterised by severe shortening of all the limb bones (micromelia) (Fig. 2) which show rounded bowing (Fig. 3). The femora have been described as 'telephone receivers' (Fig. 4). The chest is small and hypoplastic and in the sagittal section shows the 'champagne cork' appearance (Fig. 5). The face shows prominence of the forehead 'frontal bossing' which has been recognised antenatally (Fig. 6)1l·1. and Dr G M Turner & Dr P Twining Department ofRadiology, Queen's Medical Centre, Nottingham