Cornelia De Lange syndrome: A case report

Abstract

A 2-month old female infant with characteristic physiognomy, eyebrows running together medially, prominent nose and flattened nasal bridge, hirsutism, bilateral simian lines of the palms, low weight and retarded development, as well as some other features of the cornelua de lange syndrome is presented. The karyotype showed normal female pattern (46 XX). She was the product of the first pregnancy of her 27-year-old clinically normal mother. The family history, pregnancy and delivery showed no remarkable points except for a renal infection with unknown treatment in the first month of pregnancy. Different aspects of the cornelia de lange syndrome are discussed.