Classical Cornelia De Lange Syndrome

RABIA ABBAS; AFTAB ANWAR; TAHIR MASOOD AHMAD

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Classical Cornelia De Lange Syndrome

Author(s)

RABIA ABBAS 62-Rachna Block, AllamaIqbal Town, Lahore, Pakistan

AFTAB ANWAR 62-Rachna Block, AllamaIqbal Town, Lahore, Pakistan

TAHIR MASOOD AHMAD 62-Rachna Block, AllamaIqbal Town, Lahore, Pakistan

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare syndrome of multiple congenital anomalies affecting various organs, distinctive facial features, upper extremity malformations, and mental retardation. We experienced a three months old infant with features of CdLS. The phenotypic appearance is seen on a spectrum among the affected individuals.

Publication Details

Page(s) 58-60

DOI DOI not available

Published Journal: Pakistan Paediatric Journal, Volume: 37, Issue: 1, Year: 2013

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Keywords

long philtrum, Cornelia de Lange syndrome, malformation of limbs, synophrys