Deletion 22 Syndrome with Wide Spectrum of Anomalies: A Case Report

• Published in: Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics Vol. 27; no. 2
• Main Authors: Sangsari, Razieh, Kadivar, Maliheh
• Format: Journal Article
• Language: English
• Published: Tehran Tehran University of Medical Sciences 01.04.2017
• Subjects: Congenital diseases; Defects; Family medical history
• ISSN: 2008-2142; 2008-2150
• DOI: 10.5812/ijp.6121

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 (1). 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. Dilatation of fistula allowed full defecation. Because of cardiac disease, surgical repair of the anal anomaly was not possible. Shprintzen after 30 years of study of the anomaly wrote that del22 syndrome has a wide spectrum of phenotypes with more than 180 clinical manifestations that involve essentially every organ (3), and also found that different dysmorphic features can be seen in different racial groups and different ages (4) and even in one and the same family (2, 4). According to Marino...