OCULOAURICULOVERTEBRAL DYSPLASIA AND VARIANTS - PHENOTYPIC CHARACTERISTICS OF 294 PATIENTS
OCULOAURICULOVERTEBRAL DYSPLASIA AND VARIANTS - PHENOTYPIC CHARACTERISTICS OF 294 PATIENTS
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DOI：
10.1002/ajmg.1320260215
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发表时间：
1987-02-01
期刊：
影响因子：
--
通讯作者：
MARTIN, AO
中科院分区：
文献类型：
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作者：
ROLLNICK, BR;KAYE, CI;MARTIN, AO
在这里，我们描述了 294 名患有眼耳椎发育不良 (OAV) 及其变异体的单一颅面诊所人群的表型特征。据我们所知，这是文献中描述的最大的种群。根据最低诊断标准的组合，将研究人群分为五个亚组：小耳症、下颌发育不全、颈椎和/或球上肌或类皮样异常。记录以下数据：（1）性别（男：女191：103）； (2) 种族（78% 白人）； (3) 存在单侧或双侧小耳畸形（单侧193例，双侧98例）； (4) 双侧病例存在对称性小耳畸形（34/98）； (5)双侧小耳畸形同侧或对侧或最严重小耳畸形同侧存在下颌发育不全（单侧病例同侧135/137，双侧病例同侧55/62）； (6) 除最低诊断标准外不存在其他先天性异常的人数(154/294)、仅具有一种其他先天性异常的人数(51/294)以及具有两种或两种以上其他先天性异常的人数(89/294)； （七）其他先天性异常的类型。最后，我们将我们的结果与其他研究进行了比较。我们的研究结果包括：（1）单侧或双侧小耳畸形患者可能会出现下颌不对称； (2)小耳症患者双侧受累多见； (3)其他畸形在所有亚组中均常见； (4)颈椎异常更容易合并其他异常； (5) 所有系统中都存在其他畸形，应寻找其他畸形以提供最佳管理。
Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: (1) sex (M:F 191:103); (2) race (78% Caucasian); (3) the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); (4) the presence of symmetric microtia in bilateral cases (34/98); (5) the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); (6) the number of individuals with no other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and (7) the type of other congenital anomalies. Finally, we compared our results with other studies. Findings from our study include: (1) mandibular asymmetry should be expected in patients with unilateral or bilateral microtia; (2) bilateral involvement is frequent in patients with microtia; (3) other malformations are seen frequently in all subgroups; (4) anomalies of the cervical spine are more likely to be associated with other anomalies; and (5) other malformations are seen in all systems and should be searched for to provide optimal management.