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.