A Case Of Pfeiffer Syndrome Type 1

Pfeiffer syndrome is an autosomal dominant condition characterized by broad thumbs and great toes as well as craniosynostosis of the coronal sutures. Pfeiffer syndrome is very rare in the Asian population. Herein, we report the case of a male infant with Pfeiffer syndrome (acrocephalosyndactyly) who had acrocephaly, mild craniosynostosis of the coronal sutures and bilateral syndactyly of the toes.