Cornelia De Lange Syndrome and Representation

Ghaffari, J and GhaffariSaravi, V and Faribourzi, M.R (2007) Cornelia De Lange Syndrome and Representation. Journal of Mazandaran University of Medical Sciences, 17 (60). pp. 116-121.

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Official URL: http://jmums.mazums.ac.ir/article-1-258-en.html

Abstract

Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two forms including dominant autosomal and is X linked. Often mutations are NIPBL and SMC1L1. The aim of this paper is to show a case of Cornelia De Lange syndrome.

Item Type: Article
Uncontrolled Keywords: Syndrome, Cornelia De Lange, Growth retardation
Depositing User: Unnamed user with email eprints@mazums.ac.ir
Date Deposited: 04 Jan 2018 17:50
Last Modified: 04 Jan 2018 17:50
URI: http://eprints.mazums.ac.ir/id/eprint/3225

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