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letter: deletion 22 syndrome with wide spectrum of anomalies: a case report
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نویسنده
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sangsari razieh ,kadivar maliheh
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منبع
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innovative journal of pediatrics - 2017 - دوره : 27 - شماره : 2 - صفحه:1 -2
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چکیده
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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.
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کلیدواژه
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delayed diagnosis ,chromosome ,phenotype ,digeorge syndrome
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آدرس
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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
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پست الکترونیکی
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661@rasa-web.com
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Authors
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