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Paper Information

Journal:   JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES   OCTOBER-NOVEMBER 2007 , Volume 17 , Number 60; Page(s) 116 To 121.
 
Paper: 

CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT

 
 
Author(s):  GHAFARI JAVAD*, GHAFARI V., FARIBORZI M.R.
 
* FACULTY OF MEDICINE, MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, SARI, IRAN
 
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.

 
Keyword(s): SYNDROME, CORNELIA DE LANGE, GROWTH RETARDATION
 
References: 
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