Branchio-oto-renal syndrome with submucous cleft palate: A case report

被引：0
作者：
Takaoka, Shohei [1 ]
Yanagawa, Toru [2 ,3 ,4 ,6 ]
Kimura, Airi [5 ]
Uchida, Fumihiko [2 ]
Yamagata, Kenji [2 ]
Bukawa, Hiroki [2 ]
机构：
[1] Univ Tsukuba Hosp, Dept Oral & Maxillofacial Surg, Tsukuba, Ibaraki, Japan
[2] Univ Tsukuba, Inst Clin Med, Fac Med, Dept Oral & Maxillofacial Surg, Tsukuba, Ibaraki, Japan
[3] Ibaraki Cent Hosp, Ibaraki Canc Ctr, Dept Oral & Maxillofacial Surg, Kasama, Ibaraki, Japan
[4] Univ Tsukuba Hosp, Ctr Med Educ & Training, Tsukuba, Ibaraki, Japan
[5] Tsurumi Univ, Sch Dent Med, Dept oral & Maxillofacial Surg, Yokohama, Kanagawa, Japan
[6] Ibaraki Cent Hosp, Ibaraki Canc Ctr, Dept Oral & Maxillofacial Surg, Kasama, Ibaraki 3091793, Japan
来源：
ORAL SCIENCE INTERNATIONAL | 2024年 / 21卷 / 02期
关键词：
BOR syndrome; branchio-oto-renal syndrome; cleft palate; congenital disease; hearing impairment; OTO-RENAL-SYNDROME; BOR SYNDROME; HEARING-LOSS; EAR-PITS; FAMILY; EYA1;
D O I：
10.1002/osi2.1200
中图分类号：
R78 [口腔科学];
学科分类号：
1003 ;
摘要：
BackgroundBranchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by malformations of the second branchial arch, hearing impairments, and renal anomalies. Case presentationA male infant diagnosed with BOR syndrome presents with an asymmetrical face, forehead protrusion, auricle dysplasia, left external auditory canal closure, hearing impairment, mandibular hypoplasia, submucous cleft palate, facial nerve palsy, renal atrophy, and malalignment of the second toe. Palatoplasty was performed. ConclusionThis case report and related literature review have contributed to existing knowledge regarding BOR syndrome, a rare disorder.
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收藏
页码：255 / 260
页数：6
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[41]   HERV-Mediated Genomic Rearrangement of εYA1 in an Individual With Branchio-oto-renal Syndrome [J].
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[48]   Branchio-Oto-Renal syndrome:: The mutation spectrum in EYA1 and its phenotypic consequences [J].
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[49]   Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH [J].
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