Zaytoun George M, Harboyan Garbis, Kabalan Wael
Department of Otolaryngology-Head and Neck Surgery, American University of Beirut School of Medicine and Medical Center, Makassed General Hospital, Lebanon.
Otolaryngol Head Neck Surg. 2002 Feb;126(2):129-40. doi: 10.1067/mhn.2002.122184.
The oto-palato-digital (OPD) syndrome is a rare but well-defined disorder characterized by a skeletal dysplasia of the hands and feet, hearing loss, and anomalies of the palate. Since it was first described by Taybi in 1962, a little over 30 cases have been reported in the literature. A more lethal variant of the syndrome was described later by Fitch and was termed OPD type II. Several studies were conducted to determine the exact mode of inheritance of this syndrome, whereas others have focused on the characterization of the skeletal anomalies and their variations. Otologists were interested in determining the etiology of the associated hearing loss. We report 4 cases of patients with the spectrum of anomalies that characterize the OPD syndrome. These patients include 3 siblings and 1 unrelated patient who presented to our service complaining of hearing loss. The skeletal anomalies, special features, and audiologic findings are described and compared with those in previously reported cases. A discussion based on a literature review of the mode of inheritance, of variation in the clinical expression, and of the etiology of hearing loss is also included. Finally, we review and discuss the subdivision of this syndrome into the 2 types (I and II).
耳-腭-指（OPD）综合征是一种罕见但定义明确的疾病，其特征为手足骨骼发育异常、听力丧失和腭部畸形。自1962年泰比首次描述该综合征以来，文献中已报道了30多例。菲奇后来描述了该综合征更致命的一种变体，称为II型OPD。开展了多项研究以确定该综合征的确切遗传模式，而其他研究则聚焦于骨骼异常的特征及其变异。耳科医生对确定相关听力损失的病因感兴趣。我们报告了4例具有OPD综合征特征性异常谱的患者。这些患者包括3名兄弟姐妹和1名无关患者，他们因听力损失前来就诊。描述了骨骼异常、特殊特征和听力学检查结果，并与先前报道的病例进行了比较。还包括基于文献综述对遗传模式、临床表型变异和听力损失病因的讨论。最后，我们回顾并讨论了该综合征分为2型（I型和II型）的情况。
