Pfeiffer syndrome type 3, a rare and unusual craniosynostosis: case reports from Korle Bu Teaching Hospital, Accra, Ghana

Abstract

BACKGROUND: Pfeiffer syndrome is rare in the African population and there are few if any published reports from West Africa.OBJECTIVE: To report on two cases of Pfeiffer syndrome Type 3 and summarize the clinical characteristics.METHODS: All suspected but undiagnosed genetic syndromes presenting to the Children's Department over a 10-year period were evaluated by the author. This involved direct referral to the author by any member of the Paediatric team in Korle Bu Hospital. Full documentation as possible including photographs after seeking consent was taken.RESULTS: Two cases of Pfeiffer syndrome Type 3 were recorded over the ten year period.CONCLUSION: Pfeiffer syndrome Type 3 is very rare and likely to be misdiagnosed. More training in dysmorphology is required in order to diagnose unusual syndromes.