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.
引用
收藏
页码：255 / 260
页数：6
相关论文
共 50 条
  • [31] Molecular analysis of nine children with branchio-oto-renal syndrome
    Pérez-Nanclares, G
    Bilbao, JR
    Gusmano, R
    Castaño, L
    Rodríguez-Soriano, J
    PEDIATRIC RESEARCH, 2003, 54 (04) : 616 - 616
  • [32] Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge
    Kameswaran M.
    Kumar R.S.A.
    Murali S.
    Raghunandhan S.
    Karthikeyan K.
    Indian Journal of Otolaryngology and Head & Neck Surgery, 2007, 59 (3) : 280 - 283
  • [33] Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
    Williams, Lelia E.
    Sohner, Mark T.
    Sibley, Robert C., III
    Pfeifer, Cory M.
    ACTA RADIOLOGICA OPEN, 2019, 8 (07)
  • [34] The role of genetic testing in the diagnosis of Branchio-Oto-Renal syndrome
    Donielaite-Anise, Kamile
    Jankauskiene, Augustina
    PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S270 - S271
  • [35] FAMILY STUDY OF BRANCHIO-OTO-RENAL DYSPLASIA (BOR SYNDROME)
    SPROULE, J
    FRASER, FC
    HALAL, F
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A84 - A84
  • [36] A family with the branchio-oto-renal syndrome: clinical and genetic correlations
    Pierides, AM
    Athanasiou, Y
    Demetriou, K
    Koptides, M
    Deltas, CC
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2002, 17 (06) : 1014 - 1018
  • [37] GLOMERULAR-LESIONS IN THE BRANCHIO-OTO-RENAL (BOR) SYNDROME
    DUMAS, R
    UZIEL, A
    BALDET, P
    SEGOND, A
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1982, 3 (02): : 67 - 70
  • [38] Natural history of branchio-oto-renal (BOR) syndrome.
    Hudgins, L
    Jones, MC
    Olney, RS
    Enns, GM
    Schelley, SL
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 56 - 56
  • [39] CASE REPORT: NEONATAL RENAL FAILURE: PECULIAR PRESENTATION OF THE BRANCHIO-OTO-RENAL SPECTRUM DISORDER
    Kobeisy, Somyyah
    Bafageeh, Afaf
    PEDIATRIC NEPHROLOGY, 2021, 36 (10) : 3408 - 3411
  • [40] CASE REPORT OF A NOVEL MUTATION OF THE EYA1 GENE IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
    Spahiu, L.
    Merovci, B.
    Jaha, Ismaili, V
    Kepuska, Batalli A.
    Jashari, H.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2016, 19 (02) : 91 - 94
12345