[Pfeiffer syndrome: report of a case]

ABSTRACT

Pfeiffer syndrome is one of craniosynostoses syndromes with autosomal dominant inheritance. Clinical findings are craniosynostoses of coronal sutures with ocular hypertelorism, shallow orbits, proptosis, parrot noese, Broad thumbs and big toes and conductive hearing loss. FGFR2 and rarely FGFR1 are the causing genes.In this article, we are reporting a 2 years old boy with abnormal skull, hypertelorism, proptosis, broad thumbs and toes. He is the only child of normal and unrelated parents. The diagnosis based on clinical findings and confirmed by molecular genetic study