Title: Cornelia – de – Lange Syndrome with Infantile Spasms – A Rare Case Report
Authors: Swati Pradhan, Subhash Chandra Majhi, Piyush Shukla
DOI: https://dx.doi.org/10.18535/jmscr/v7i10.161
Abstract
Introduction
Cornelia de-Lange syndrome (CdLS) was first described as a distinct syndrome in 1933, by Dr Cornelia de-Lange, a Dutch paediatrician, after whom the disorder has been named, though the first ever documented case was in1916 by Dr Brachmann.(1) It is a rare genetic disorder characterised by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities.(2) Seizure is found about 20% of cases majority being partial seizure type (64.3 %).(3)
