Suppr超能文献

正中面裂综合征或额鼻发育异常:一例伴有肾脏畸形的病例报告

Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation.

作者信息

Roizenblatt J, Wajntal A, Diament A J

出版信息

J Pediatr Ophthalmol Strabismus. 1979 Jan-Feb;16(1):16-20. doi: 10.3928/0191-3913-19790101-05.

Abstract

The authors present a case of an 11-month-old girl with the medial cleft face syndrome and the following malformations: ocular hyperterolism, primary telecanthus, cleft nose with absent tip, broad nasal root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial deafness and agenesia of the right kidney. The authors propose that the eyelid is responsible for the area of hair growth suppression around the eyes. This is the first case report of median cleft face syndrome associated with renal agenesia.

摘要

作者报告了一例11个月大患有面中部裂综合征及以下畸形的女孩:眼部过度增生、原发性内眦距增宽、鼻尖缺如的鼻裂、宽鼻根、左上睑完全缺如、相应额部发际线植入异常、高拱腭、神经性耳聋及右肾发育不全。作者提出眼睑是眼睛周围毛发生长抑制区域的成因。这是首例面中部裂综合征合并肾发育不全的病例报告。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验