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本文报道了一例32岁男性具有6p24.3-pter缺失的病例。这名男患有眼前房发育异常所致的发育性阅读困难,有符合新近虹膜发育基因定位的悬雍垂裂和与6p远侧端有关的口面裂。另外该患还有进行性感觉神经性耳聋,因此致聋基因也可能定位于这一区域。我们推断一个典型的6p远侧端缺失综合征患者存在特异的面部外观,包括面部距离过宽,眼睑下垂,幔形嘴,人中平坦,腭畸形,耳朵异常,眼前房缺陷,进行性感觉神经性耳聋,心脏缺陷,腹疝,小外生殖器,运动性语言迟缓。
This article reports a case of a 32-year-old male with a 6p24.3-pter deletion. The man has developmental dyslexia due to an anterior chamber dysplasia, uvula splits that conform to the recent location of the iris developmental gene, and orofacial fissures associated with the distal end of 6p. In addition to the risk of progressive sensory deafness, deafness gene may also be located in this area. We conclude that there is a specific facial appearance in a typical patient with a 6p distal defect syndrome, including an excessively wide facial distance, drooping eyelids, mantle plugs, flat people, palatal deformities, abnormal ear, anterior chamber defect, progressive sensory nerve Deafness, heart defects, abdominal hernia, small external genitalia, and locomotor delay.