Johanson-Blizzard syndrome.

In 1971 Johanson and Blizzard' reported a new syndrome in three unrelated girls characterised by congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. Children with this syndrome had been described earlier by Morris and Fisher in 19672 and Townes in 19693 as examples of trypsinogen deficiency disease. Townes and White4 subsequently reviewed the patient reported in 19693 and described the presence of additional features which confirmed the diagnosis of the Johanson-Blizzard syndrome. There have since been 22 patients reported with Johanson-Blizzard syndrome, and a further seven children related to these. The spectrum of associated features is now well documented and the inheritance of the syndrome is autosomal recessive. However, there remain many problems which make counselling difficult, in particular the degree of mental handicap and the observation that some children die from complications of the severe malabsorption despite intensive treatment. This article reviews the 22 patients previously reported and also includes details of a previously unreported boy.