التفاصيل البيبلوغرافية
| العنوان: |
گزارش موردی کودک مبتلا به سندرم نادر برانکیو-اکولو-فاسیال |
| العنوان البديل: |
A Case of Child with Branchio-Oculo-Facial Syndrome. |
| المؤلفون: |
فضائلی, سیده مریم1 ma.fazaeli@stu-mail.um.ac.ir, مهدیه, رؤیا2, شفقتی, یوسف3 |
| المصدر: |
Journal of Mazandaran University of Medical Sciences (JMUMS). 2016, Vol. 26 Issue 137, p217-223. 7p. |
| مصطلحات موضوعية: |
*BRANCHIO-oto-renal syndrome, *GENETIC disorders, *BRANCHIAL arch, *MENTAL illness treatment, *PHYSIOLOGY |
| مصطلحات جغرافية: |
IRAN |
| مستخلص: |
Branchio-oculo-facial (BOF) is a rare genetic disorder inherited as an autosomal dominant trait resulting from maldevelopment in the branchial arches. This paper presents a case of sporadic BOF for the first time in Iran. He was 2 years and 9 months old that was born in the first pregnancy (normal birth). His parents were healthy and they were 3rd degree relatives. The patient had normal intelligence. His obvious symptoms were holes in both sides of the neck (he had surgery at 6 months of age), broad nasal bridge, nasal duct obstruction, pseudocleft of the upper lip, submucos cleft palate, microphthalmia, and squint eye (more dropping in right eye). He also had hypernasal speech. This rare syndrome is accompanied with different anomalies, and physical and mental disorders, therefore, a team of specialists is needed in treatment of such patients. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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