Skarzynski Henryk, Podskarbi-Fayette Robert
International Center of Hearing and Speech of The Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland.
Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):143-51. doi: 10.1016/j.ijporl.2008.09.021. Epub 2008 Nov 13.
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.
裂手裂足-外胚层发育不良-腭裂（EEC）、鳃-眼-面综合征（BOF）和局灶性真皮发育不全（戈尔茨综合征）已被概述。所有患者均表现出双侧听力障碍和皮肤问题等常见的耳鼻咽喉科特征。介绍并讨论了这三种综合征的诊断方案和治疗策略。通过临床检查和听力学方法确定了头颈部的皮肤病变和听力损失程度。治疗听力减退和皮肤疾病是所呈现病例中的主要问题。在EEC综合征和局灶性真皮发育不全病例中，我们的首要任务是将听力提高并维持在社会有效交流的水平。患有鳃-眼-面综合征的患者在12个月大时接受了人工耳蜗植入，并接受了双侧耳后瘘管的手术治疗。在这两种发育异常的病例中，均采用了保守治疗和耳外科手术。展示了12个月后的治疗结果。在所有患者中，听力结果使他们在交流中具备了良好的社交技能，并实现了良好的局部状况。文中提到了未来干预的可能性，并强调了医学随访和康复的必要性，这是维持本研究中所呈现治疗效果的关键问题。患有局灶性真皮发育不全综合征的患者接受了二氧化碳激光治疗面部和颈部的乳头状病变。随访检查中获得了良好的美学效果且无复发。患有鳃-眼-面综合征的婴儿在我们的人工耳蜗植入中心接受康复治疗，瘘管已愈合且无并发症。由于所呈现综合征的罕见性和症状的多样性，尚未建立标准治疗方法。然而，在这些病例中，专注于改善听力以达到并维持社会交流水平的听力至关重要。
