Branchio-oculo-facial syndrome with the atresia of external ear

Öztürk, Özcan; Tokmak, Abdurrahman; Demirci, Levent; Sılan, Fatma; Güçlü, Ender

doi:10.1016/j.ijporl.2005.04.013

Cited by 5 publications

(6 citation statements)

References 10 publications

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“…Congenital external ear canal stenosis has been reported in 5 patients with BOF syndrome (Table 1). 1,8,13,16 In our first patient, there was a bony narrowing of the left external ear canal, providing a soft tissue obstruction of the medial ear canal (Fig 2). There was also a bony atretic plate in the tympanic membrane that provided a bony fixation of the malleus.…”

Section: Discussionmentioning

confidence: 79%

“…The patients presented here are listed in Table 1, which presents a review of the literature on BOF syndrome. 1,[7][8][9][10][11][12][13][14][15][16][17][18] Furthermore, all features mentioned are tabulated. A wide variation in observed entities and frequencies is noted.…”

Section: Methodsmentioning

confidence: 99%

“…1,8,13,17 In most patients, the hearing loss was only mentioned as a feature, with no detailed audiometric data provided; only a few authors provided detailed audiometric data for specific cases. 1,13,16 In 3 patients, including the aforementioned patient with the meatoplasty, use of an air-conduction hearing aid was considered the best course of action. 1,7,8…”

Section: Methodsmentioning

confidence: 99%

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Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Thomeer¹,

Crins²,

Kamsteeg³

et al. 2010

Ann Otol Rhinol Laryngol

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We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

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Section: Discussionmentioning

confidence: 79%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Thomeer¹,

Crins²,

Kamsteeg³

et al. 2010

Ann Otol Rhinol Laryngol

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“…They may also present with abnormalities of the pinnae, resulting in malformed or prominent ears, middle ear abnormalities, or inner ear abnormalities. [1314] Ectodermal abnormalities include premature hair graying (poliosis). Dysplastic nails and hypoplastic teeth abnormalities can also occur.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features

et al. 2018

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Branchio-oculo-facial syndrome (BOFS), a rare, multiple-malformation congenital disorder, is characterized by facial anomalies, including associated cutaneous and ocular abnormalities. We report a new case of BOFS in an 11-year-old male child with bilateral cervical erythematous scaly linear plaque associated with scar formation and erosion. Although BOFS is very rare, physicians, especially dermatologists, should be aware of the cutaneous and histopathological features of BOFS due to impacts of the associated anomalies.

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“…Our patient did not present any signs of facial nerve anomaly. Other authors report on conductive type hearing impairment due to unilateral atresia of the external ear canal [25] or bilateral malformation of the ossicles [26]. Both groups list periauricular skin defects and fistulae as coexisting malformations.…”

Section: Discussionmentioning

confidence: 99%

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

Skarżyńśki

Podskarbi-Fayette

2009

International Journal of Pediatric Otorhinolaryngology

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Branchio-oculo-facial syndrome with the atresia of external ear

Cited by 5 publications

References 10 publications

Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

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