Erkus Serkan, Turgut Ali, Onvural Burak, Kalenderer Onder
Tepecik Training and Research Hospital, Department of Orthopaedics and Traumatology, İzmir, Turkey.
J Clin Orthop Trauma. 2020 Mar-Apr;11(2):307-309. doi: 10.1016/j.jcot.2019.04.001. Epub 2019 Apr 6.
Cornelia de Lange syndrome is a genetic disorder with multiple system abnormalities. It is especially characterized by typical facial appearance and hirsutism. Growth and mental retardation, gastrointestinal, cardiovascular, and orthopedic abnormalities are other important features of this syndrome. In this case, we present a rare manifestation of Cornelia de Lange syndrome with a unilateral pes equinovarus deformity without other more specific orthopedic manifestations. Ponseti method's was applied as the initial procedure. Afterwards, complete subtalar release was performed. After four years follow-up, clinical and radiological results were satisfactory. Unilateral pes equinovarus deformity may be a part of this syndrome as well as a sporadic presentation. The discrimination is important for anesthetic procedures and surgical outcomes.
科妮莉亚·德朗热综合征是一种伴有多系统异常的遗传性疾病。其特别特征为典型面容和多毛症。生长发育迟缓、智力障碍、胃肠道、心血管及骨科异常是该综合征的其他重要特征。在本病例中，我们呈现了科妮莉亚·德朗热综合征的一种罕见表现，即单侧马蹄内翻足畸形，且无其他更典型的骨科表现。最初采用了庞塞蒂方法。之后，进行了完整的距下关节松解术。经过四年随访，临床和影像学结果令人满意。单侧马蹄内翻足畸形可能是该综合征的一部分，也可能是散发性表现。这种鉴别对于麻醉程序和手术结果很重要。
