APERT SYNDROME : A Case Report In SNCU

Dash Nishant Nilotpala; Bhol Deepak Ranjan; Agarwalla Sunil Kumar; Sethy Geetanjali; Mishra Shubhankar

Volume : V, Issue : XII, December - 2015

APERT SYNDROME : A Case Report In SNCU

Dash Nishant Nilotpala, Bhol Deepak Ranjan, Agarwalla Sunil Kumar, Sethy Geetanjali, Mishra Shubhankar

Abstract :

Apert Syndrome is a rare acrocephalosyndactyly characterised by dysmorphic facial features, craniosynostosis and severe symmetrical syndactyly of hands and feet (cutaneous and bony fusion). Inherited as a autosomal dominant trait, but most cases are sporadic. It includes prominent clinical features i.e. turricephaly,anterior open–bite maxilla, impacted and crowded teeth, cleft palate, bifid uvula,thick gingiva and mandible simulating pseudoprognathism. Clinical, genetic and biochemical approach have recently allowed tremendous scientific advances in understanding the molecular basis of Apert Syndrome. In the present case report we report a 3 day old male child with all the clinical features in agreement with Apert Syndrome like hypertelorism, exophthalmos, Depressed nasal idge, cleft palate, mitten hand. The pt. was referred to specialized centre for clinical care with special needs.