>
Fa   |   Ar   |   En
   letter: deletion 22 syndrome with wide spectrum of anomalies: a case report  
   
نویسنده sangsari razieh ,kadivar maliheh
منبع innovative journal of pediatrics - 2017 - دوره : 27 - شماره : 2 - صفحه:1 -2
چکیده    Dear editor digeorge syndrome is a congenital disease with a wide spectrum of clinical manifestations including characteristic facial anomalies, congenital heart disease, hypoplastic thymus, immune deficiency, palatal and kidney anomalies, hypocalcemia, and speech and learning disabilities. it is associated with submicroscopic deletions of chromosome 22 (22q11.2). characteristic facial features of this syndrome include periorbital fullness, upslanted and narrow palpebral fissures, prominent nose with large tip and hypoplastic nares, small mouth with everted upper lip and small dysmorphic ears. some patients, especially in neonatal period, may lack characteristic facial features or show only a subtle facial phenotype.
کلیدواژه delayed diagnosis ,chromosome ,phenotype ,digeorge syndrome
آدرس tehran university of medical sciences, department of pediatrics, ایران. pediatrics center of excellence, children’s medical center, division of neonatology, ایران, tehran university of medical sciences, department of pediatrics, ایران. pediatrics center of excellence, children’s medical center, division of neonatology, ایران
پست الکترونیکی 661@rasa-web.com
 
     
   
Authors
  
 
 

Copyright 2023
Islamic World Science Citation Center
All Rights Reserved