抽象的な

Recognizing the clinical phenotypes of Cornelia de Lange Syndrome a case report

Issell Nicolle Aguirre*, Jose Ángel Cruz Estrada

The wide range of genetic diseases usually have clinical manifestations at a structural and neurodevelopment level, this also apply to the Cornelia de Lange syndrome which is associated to divers errors on the genetic structures of NIPBL,SMC1A, SMC3, RAD21, HDAC8. This genes regulate cohesin which takes an important rol in chromatin fusion. The Cornelia de lange syndrome has different phenotypic characteristics clinically speaking, including growth restriction, variable cognitive deficit, upper extremity malformations and distinct characteristics on cranial bone and face which can help to make an early clinical diagnostic [1]. Here a 2 month old girl is presented who had a low weight at birth of 1320 gr and various phenotypic craneofacial and extremity malformations compatible with cornelia de lange syndrome.