APERT SYNDROM case report

Abstract

Primary craniosynostosis is a from of premature fusion of the cranial sutures, an event which usually occurs prenatally. Both syndromic and nonsyndromic forms exist. Most cases are of unknown etiology; genetic syndromes account for 10%–20% of cases, of which Apert, Crouzon and Pfeiffer syndromes are the most common. Scaphocephaly occurs from premature closer of the sagittal suture and is the most common form of craniosynostosis. Frontal plagiocephaly is the next most common form and results from premature fusion of a coronal and sphenofrontal suture. Palpation of the suture at birth often reveals a bony ridge. Skull radiograph or head CT may be considered. Certain genetic forms of craniosynostosis are caused by mutations in TWIST, FGFR1, FGFR2, or FGFR3. Apert syndrome is a rare congenital disorder characterized by craniosynostosis (such as cone-shaped calvarium) and severe symmetrical syndactyly of the hands and feet. We have aimed to present a newborn male patient having all the features of classical Apert syndrome.