Pfeiffer Syndrome Type Ii : A Genetically Proven Case

Abstract

Pfeiffer syndrome is a rare genetic disorder in western population .This condition is very rare in the Asian population. This syndrome was first described by Rudolf Pfeiffer in 1964. We are presenting here is a case of newborn with pfeiffer syndrome type II demonstrating a cloverleaf skull with craniosynostosis, hypertelorism, bilateral proptosis, low set ears, syndactyly, broad thumb broad great toe, elbow synostosis.