Apert Syndrome Presenting with Omphalocele

ABSTRACT

Apert syndrome is a congenital acrocephalosyndactylysyndrome. It is mainly presented by craniosynostosis,syndactyly of the hands and feet and dysmorphic facialfeatures. The condition has an autosomal dominantinheritance assigned to mutations in the FibroblastGrowth Factor Receptors (FGFR-2) gene. The reportedcase is a 9 months old boy with clinical suspicion ofApert syndrome as he had turricephaly, stubby handswith short fingers, omphalocele measuring 10 × 10 cm,bilateral undescended testes, Congenital TalipesEquinovarus (CTEV) and polydactyl and syndactyl ofgreat and second toes. He was developmentallynormal. The omphalocele was surgically repaired.Early diagnosis and intervention helps rehabilitation ofpatients with Apert syndrome and help them to lead abetter life.