Cornelia – de – Lange Syndrome with Infantile Spasms

Volume 07 Issue 10 October 2019 Hits: 1537

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⁾

Abstract

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