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首页> 外文期刊>Clinical dysmorphology >Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings. Is it a new autosomal recessive syndrome?
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Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings. Is it a new autosomal recessive syndrome?

机译:两个兄弟姐妹伴有left裂,错牙合畸形,面中发育不全和感觉神经性听力丧失的异常三角形相的家族性综合征。它是一种新的常染色体隐性遗传综合征吗?

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摘要

We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, cleft palate and mild sensorineural hearing loss in two siblings. The parents were unrelated. The patients' stature and intelligence were normal. We suggest that the inheritance is autosomal recessive.
机译:我们提出了一个以前未描述的综合征,其特征是两个兄弟姐妹的面部呈三角形,面部中部发育不全,left裂和轻度的感音神经性听力丧失。父母没有亲戚。患者的身材和智力均正常。我们建议遗传是常染色体隐性遗传。

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