Volume 17, Issue 60 (Oct 2007)
J Mazandaran Univ Med Sci 2007, 17(60): 116-121 |
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Ghaffari J, Ghaffari Saravi V, Faribourzi M. Cornelia De Lange Syndrome and Representation. J Mazandaran Univ Med Sci 2007; 17 (60) :116-121
URL: http://jmums.mazums.ac.ir/article-1-258-en.html
URL: http://jmums.mazums.ac.ir/article-1-258-en.html
Abstract: (10515 Views)
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.
Type of Study: Research(Original) |
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