A CASE OF CHILD WITH BRANCHIO-OCULO-FACIAL SYNDROME

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Fazaeli Seyyedeh Maryam; Mahdie Roya; SHAFAGHATI YOUSEF

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Journal: Journal of Mazandaran University of Medical Sciences Year:2016 | Volume:26 | Issue:137 Page(s): 217-223

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Information Journal Paper

Title

A CASE OF CHILD WITH BRANCHIO-OCULO-FACIAL SYNDROME

Author(s)

Fazaeli Seyyedeh Maryam | Mahdie Roya | SHAFAGHATI YOUSEF | Issue Writer Certificate

Keywords

BRANCHIO-OCULO-FACIAL SYNDROMEQ1

GENETICSQ1

TFAP2A GENEQ1

BRANCHIAL ARCHESQ1

PSEUDO CLEFTQ1

OCULAR ANOMALIESQ1

Abstract

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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APA: Copy

Fazaeli, Seyyedeh Maryam, Mahdie, Roya, & SHAFAGHATI, YOUSEF. (2016). A CASE OF CHILD WITH BRANCHIO-OCULO-FACIAL SYNDROME. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 26(137), 217-223. SID. https://sid.ir/paper/45661/en

Vancouver: Copy

Fazaeli Seyyedeh Maryam, Mahdie Roya, SHAFAGHATI YOUSEF. A CASE OF CHILD WITH BRANCHIO-OCULO-FACIAL SYNDROME. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2016;26(137):217-223. Available from: https://sid.ir/paper/45661/en

IEEE: Copy

Seyyedeh Maryam Fazaeli, Roya Mahdie, and YOUSEF SHAFAGHATI, “A CASE OF CHILD WITH BRANCHIO-OCULO-FACIAL SYNDROME,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 26, no. 137, pp. 217–223, 2016, [Online]. Available: https://sid.ir/paper/45661/en

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