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Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):143-51. doi: 10.1016/j.ijporl.2008.09.021. Epub 2008 Nov 13.

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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  • 1International Center of Hearing and Speech of The Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland.


Genetic background and characteristic symptoms of three children with rare genetic syndromes: Ectrodactyly Ectodermal dysplasia Clefting (EEC), Branchio-Oculo-Facial (BOF) and focal dermal hypoplasia (Goltz syndrome) were outlined. All patients presented common otorhinolaryngological features of bilateral hearing impairment and dermal problems. Diagnostic protocol and treatment strategies for all three syndromes were presented and discussed. Skin lesions of the head and neck and degree of hearing loss were identified in clinical examination and by audiological methods. Treatment of hypoacousis and skin disorders were the primary issues in presented cases. In both the EEC syndrome and FDH our priority was to achieve and maintain hearing at the level of social efficiency. Patient with the Branchio-Oculo-Facial syndrome received a cochlear implant at the age of 12 months and was surgically treated for bilateral retroauricular fistulas. In both cases of dysplasia conservative treatment and otosurgery were applied. Results of treatment after 12 months are presented. In all patients hearing result provided good social skills in communication and a good local condition was achieved. Possibilities for future interventions were mentioned and necessity for medical follow-up and rehabilitation were stressed as key issues in maintaining results achieved with treatment presented in this study. Patient with FDH underwent CO(2) laser treatment for papillomatous lesions on her face and neck. Good aesthetic result without recurrence in follow-up examinations was achieved. Baby with the Branchio-Oculo-Facial syndrome is rehabilitated in our Cochlear Implant Center and the fistulas have healed without complications. Due to the rarity and multiplicity of symptoms in presented syndromes a standard therapy has not been established yet. However, it is of crucial importance in such cases to focus on hearing improvement in order to reach and maintain hearing at the level of social communication.

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