Salinas-Torres Victor M, Salinas-Torres Rafael A
Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Baja California, Mexico.
Departamento de Estadística, Hospital General de Tijuana ISESALUD, Baja California, Mexico.
Int J Pediatr Otorhinolaryngol. 2016 Jun;85:19-21. doi: 10.1016/j.ijporl.2016.03.021. Epub 2016 Mar 22.
Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS.
耳面颈综合征（OFCS）是一种罕见的疾病，其特征为面部、耳部、鳃弓和肌肉骨骼异常，同时伴有听力损失和轻度智力障碍。临床上，将其与鳃耳肾综合征区分开来可能具有一定难度。迄今为止，尚未有关于OFCS与间叶性软骨瘤病共存的报道。在此，我们描述了一名同时患有OFCS和间叶性软骨瘤病的散发性患者。这种新的关联促使我们对鳃弓疾病的临床变异性发表一些看法；事实上，我们的观察结果与OFCS高度可变的表现一致，并说明了更准确地描述这些鳃弓疾病的必要性。与此同时，锁骨、肩胛骨和肩部受累仍是OFCS的一个显著特征。
