Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia

The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK.