Jones Chris, Baldrighi Carla, Mills Janith, Bush Patricia, Ezaki Marybeth, Oishi Scott
Department of Hand Surgery, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.
J Hand Surg Am. 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026.
Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. Major associated problems include neurologic, ophthalmologic, dental, and other skeletal abnormalities. The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families.
We reviewed medical records from Texas Scottish Rite Hospital for Children from 1980 to 2009 to identify patients with ODDD. These patients and families were invited to return for a detailed medical and family history and physical examination documenting hand, foot, eye, dental, and facial findings.
A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 individuals in 31 families agreed to participate in the study. We observed bilateral syndactyly in 32 patients, with symmetric involvement in 31 of these. Abnormalities of the shape and size of the middle phalanx of the small finger were common. Ophthalmological findings were present in 31 and dental abnormalities identified in 33 patients. Neurologic findings likely related to ODDD were found in 11 patients. There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such as paraparesis or cognitive deficits.
We found a 29% incidence of neurologic manifestations in patients with ODDD. In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD.
TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.
当患有尺侧并指的婴儿前来就诊时，手外科医生通常是首批诊治眼齿指发育不良（ODDD）患者的专科医生。主要相关问题包括神经、眼科、牙科及其他骨骼异常。本研究的目的是调查我们的ODDD患者家庭中所报告的相关病症的发生率，将它们与并指的严重程度相关联，并为这些患者及其家庭提供更准确信息的更好咨询服务。
我们回顾了1980年至2009年得克萨斯州苏格兰 rite 儿童医院的病历，以确定ODDD患者。邀请这些患者及其家属回来进行详细的病史和家族史以及体格检查，记录手部、足部、眼睛、牙齿和面部的检查结果。
47个家庭中的73名儿科患者被诊断为ODDD，31个家庭中的38人同意参与研究。我们观察到32例患者存在双侧并指，其中31例为对称受累。小指中节指骨的形状和大小异常很常见。31例有眼科检查异常发现，33例有牙科异常。11例患者发现可能与ODDD相关的神经学检查结果。并指的严重程度与牙科和泌尿系统检查结果的严重程度之间似乎存在关联，但与眼科或神经学检查结果如轻截瘫或认知缺陷无关。
我们发现ODDD患者中神经学表现的发生率为29%。此外，相关的眼科、牙科和发育病症很常见，提高认识将有助于为ODDD中患有尺侧并指的患者进行适当转诊。
研究类型/证据水平：预后性IV级。
