A Case of Child with Branchio-Oculo-Facial Syndrome - Journal of Mazandaran University of Medical Sciences
Volume 26, Number 137 (6-2016)                   J Mazandaran Univ Med Sci 2016, 26(137): 217-223 | Back to browse issues page


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Fazaeli M, Mahdie R, Shafaghati Y. A Case of Child with Branchio-Oculo-Facial Syndrome . J Mazandaran Univ Med Sci. 2016; 26 (137) :217-223
URL: http://jmums.mazums.ac.ir/article-1-7720-en.html

Abstract:   (2063 Views)

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. 

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Type of Study: Case Report |

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