Achondrogenesis A clinical and radiological report

SUMMARYAchondrogenesis is a rare form of short‐limbed dwarfism which is invariably lethal. This is the first reported case of achondrogenesis in Singapore. As most newborns with a large head and short limbs were assumed to have achondroplasia, the importance of radiological studies of short‐limbed dwarfism is stressed. Recognition of achondrogenesis has also an important implication in genetic counselling as present evidence suggests that it is an autosomal recessive disorder.