Haj Kassem Luma, Ahmado Mohamed Fares, Sheikh Alganameh Majd
ENT Department, Aleppo University Hospital, Aleppo, Syria.
J Med Case Rep. 2018 Jul 5;12(1):192. doi: 10.1186/s13256-018-1704-1.
Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The main clinical manifestations are facial abnormalities, pigmentary defects, and hearing loss with no specific predilection with regard to sex or race.
An Arabic Syrian family, consisting of 14 siblings from third-degree relative parents with a low income, living in the Syrian countryside, presented to our institute with their 8-year-old son who had congenital hearing loss that had led to his inability to speak. He has six siblings who had congenital sensory hearing loss proven by auditory brainstem response tests at an early age. An otoacoustic emissions test and a pure-tone audiogram were performed for our patient and showed sensory hearing loss. An interesting feature in the last seven siblings was that some of them have heterochromia iris, and the others have segmental heterochromia in their iris. An ophthalmology consultation was performed to detect any other features or disorders. A dermatology consultation, laboratory tests, and chest X-ray were also performed for all the siblings and revealed no abnormalities. There was no history for musculoskeletal system or intestinal disorders. Based on the Waardenburg criteria, our patient and his six siblings all have Waarenburg syndrome.
Although the inheritance of Waardenburg syndrome is autosomal dominant, de novo cases of this rare syndrome are mentioned in the medical literature. We report a unique case of seven siblings with Waardenburg syndrome. This case report shows the crucial role of consanguineous parents on this syndrome, and indicates that the number of children with this rare syndrome is increasing.
瓦登伯革氏综合征是一组罕见的遗传病。它由眼、毛发和皮肤中黑素细胞缺失所致。瓦登伯革氏综合征有四种类型，诊断不同类型有特定标准。主要临床表现为面部异常、色素沉着缺陷和听力丧失，在性别或种族方面无特定偏好。
一个阿拉伯叙利亚家庭，由来自三级亲属父母的14个兄弟姐妹组成，收入低，生活在叙利亚农村，带着他们8岁的儿子来到我们研究所，该男孩患有先天性听力丧失，导致无法说话。他有6个兄弟姐妹在幼年时经听性脑干反应测试证实患有先天性感觉神经性听力丧失。对我们的患者进行了耳声发射测试和纯音听力图检查，结果显示为感觉神经性听力丧失。最后7个兄弟姐妹的一个有趣特征是，其中一些人有虹膜异色症，其他人虹膜有节段性异色症。进行了眼科会诊以检测是否有其他特征或疾病。还对所有兄弟姐妹进行了皮肤科会诊、实验室检查和胸部X光检查，未发现异常。无肌肉骨骼系统或肠道疾病史。根据瓦登伯革氏标准，我们的患者及其6个兄弟姐妹均患有瓦登伯革氏综合征。
尽管瓦登伯革氏综合征的遗传方式为常染色体显性遗传，但医学文献中提到了这种罕见综合征的新发病例。我们报告了一例独特的7个兄弟姐妹患瓦登伯革氏综合征的病例。本病例报告显示了近亲父母在该综合征中的关键作用，并表明患这种罕见综合征的儿童数量正在增加。
