A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family

We report a severe case of Pfeiffer syndrome with an early demise. The mother and her own father had unilateral stub thumb which was inherited as a coincidental autosomal dominant trait. Although the affected thumb was short, it was not broad and neither family member had any features of Pfeiffer syndrome. We conclude that our patient represents a new Pfeiffer syndrome mutation.