DR. SWATISHREE NAYAK

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder that has autosomal recessive inheritance affecting bone growth. Herein, we report a case of EVC in a child of Indian origin with the classic manifestations of ectodermal dysplasia, chondrodysplasia, congenital heart disease along with the presence of right eye exotropia and nystagmus. As the exotropia was associated with myopic refractive error, the child was first prescribed glasses. Knowledge about this syndrome can be beneficial to the ophthalmologists to have a strong suspicion of this syndrome so that early diagnosis and treatment can be initiated.