Microtia:: A clinical and genetic study at the National Institute of Pediatrics in Mexico city
Microtia:: A clinical and genetic study at the National Institute of Pediatrics in Mexico city
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DOI：
10.1016/s0188-0128(98)00023-2
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发表时间：
1999-03-01
影响因子：
7.7
通讯作者：
Carnevale, A
中科院分区：
文献类型：
--
作者：
Llano-Rivas, I;Gonz치lez-del Angel, A;Carnevale, A
背景小耳畸形是一种具有极端变异性的耳部畸形。它通常被视为孤立的畸形。然而，一些作者认为这是一个最小的表现，眼耳椎频谱（OAVS），其中，此外，然后是面部，脊椎，肾脏异常，等等。共145例儿童单侧或双侧小耳不被认为是一个综合征的一部分进行了研究。所有患者均接受了有意的临床检查，家族史，放射成像研究，以排除相关畸形。患者分为两组：第1组（60%），孤立性小耳畸形;第2组（40%），OAVS，小耳畸形伴半侧颜面骨骼矮小、脊椎和/或肾脏畸形。当比较以下变量时，未发现组间存在显著差异：性别;单侧或双侧小耳畸形;闭锁外耳道;耳前耳突的存在;任何类型的听力损失，第七脑神经的影响，以及其他器官或系统的相关畸形。有显着差异，在存在软组织半侧颜面矮小，更常见于OAVS患者，因为这些患者中的大多数有骨矮小。超过66%的病例是散发的，其余的是熟悉的。在28.3%的病例中，病史提示常染色体显性遗传模式，在5.5%的病例中，常染色体隐性遗传模式，尽管在一些家族性病例中，多因素遗传也不能忽视。部分家系成员有孤立性小耳畸形，部分家族成员有轻度OAVS特征性表现。我们的研究结果支持这一假设，孤立性小耳畸形是一个最小的表达OAVS。因此，建议对小耳畸形患者进行有针对性的研究，寻找一级亲属的畸形和体格检查，以进行适当的遗传咨询和管理。(C)1999年IMSS。出版社：Elsevier Science Inc.
Background. Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, then are facial, vertebral, and renal abnormalities, among others.Methods. A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history; and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations.Results. No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS.Conclusions. Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management. (C) 1999 IMSS. Published by Elsevier Science Inc.