Pfeiffer Syndrome

Lee, Duk Yong; Lee, Kye Hyoung; Kim, Han Soo; Moon, Hyung Ro

Abstract

Pfeiffer syndrome, an unusual type of acrocephalosyndactyly, is a complex of associated malformations, first described by Pfeiffer in 1964. In addition to the common head and face anomalies seen in other acrocephalosyndactylies, its characteristics are broad thumbs and big toes, minimal syndactyly and normal intelligence. It is inherited in autosomal dominant pattern and shows various clinical features. The author's case was a 7-year old boy, who had been managed since birth for bilateral congenital resistant clubfeet including cast correction for six months and two operations. At present he represents not only the common features described above but also some unique features, e.g. pectus excavatum, posterior dislocation of both elbows, mild genu valgum, metatarsus adductus and complex malalignment of carpal and tarsal bones. To our knowledge, there is no report on Pfeiffer syndrome in Korea. The authors report a case of Pfeiffer syndrome with review of literatures.