CORNELIA DE LANGE SYNDROME: ONCE IN A BLUE MOON

Farheen Jahan*, Rashmi Sapkal and Vinod V. C.

ABSTRACT

Background: A congenital scare genetic disorder is Cornelia de lange syndrome. Prevalence of cornelia de lange syndrome is variable, ranging from 1:10,000 and 1:100,000 birth in different population. There is no gender predilection of cornelia de lange syndrome. Diagnosis of this syndrome based on distinctive facial and other systemic features. Case: Here for the first time a case of Cornelia de lange syndrome from Western Maharashtra, 15 year male who was reported to department of oral medicine and radiology with chief complaint of decayed teeth and on the basis of family, past medical history and clinical examination master boy was diagnosed with CDLS. Conclusion: This was first case report of Cornelia de lange syndrome in Western Maharashtra.

Keywords: Cornelia de lange syndrome, Hirsutism, Cutis marmorata, Micromelia and macromelia polydactyl.