HEMIFACIAL MICROSOMIA AND VARIANTS - PEDIGREE DATA
HEMIFACIAL MICROSOMIA AND VARIANTS - PEDIGREE DATA
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DOI：
10.1002/ajmg.1320150207
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发表时间：
1983-01-01
期刊：
影响因子：
--
通讯作者：
KAYE, CI
中科院分区：
文献类型：
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作者：
ROLLNICK, BR;KAYE, CI
耳畸形本身或与其他先天性异常一起发生。许多综合征与耳畸形被描述。研究了患有半面小畸形（HFM）或Goldenhar综合征（GS）的儿童，也称为眼耳椎发育不良（OAV）。除了耳朵畸形外，有些人可能有一个小的或畸形的下颌骨，外球或结膜脂皮样瘤和颈椎异常。其他畸形也可以看到。目前，这些疾病的病因尚不清楚。报告了97例患者的家谱数据，其中44例患者有相同或相似的异常家族史。一级亲属最常受影响（35/433,8%）。在所列176个兄弟姐妹中，11个（6%）被认为受到影响。发生在许多家庭的模式表明多因素的决定，尽管其他解释是可能的。在一个家庭中出现不同的异常表明，这些疾病是由一个单一的实体组成的。最常见的异常是轻微的耳畸形（耳前结或耳旁结）。这表明存在广泛的表型谱。这些数据对遗传咨询的目的是有用的。
Ear malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations were described. Propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculovertebral dysplasia (OAV) were studied. In addition to ear malformations some individuals may have a small and or malformed mandible, epibulbar or conjunctival lipodermoids and anomalies of the cervical spine. Other malformations may also be seen. At present, the cause of these disorders is unclear. Pedigree data is presented on 97 propositi, 44 of whom had a family history of the same or similar anomaly. First-degree relatives were most often affected (35/433, 8%). Of 176 sibs tabulated, 11 (6%) were considered affected. The pattern of occurrence in many families suggested multifactorial determination, although other interpretations are possible. The occurrence of differing anomalies within a family suggests that the disorders consistute a single entity. The most frequent anomaly was a mild ear malformation (preauricular node or tag). This suggests a broad phenotypic spectrum. These data are useful for purposes of genetic counseling.