缺失9p综合征伴软硬腭裂1例

IF 0.6 Q4 DENTISTRY, ORAL SURGERY & MEDICINE
Shohei Takaoka, Toru Yanagawa, Fumihiko Uchida, Naomi Ishibashi‐Kanno, Kenji Yamagata, Hiroki Bukawa
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引用次数: 0

摘要

背景缺失9p综合征是一种罕见的染色体结构疾病。缺失9p综合征的各种表型已被报道;然而,腭裂在许多病例中并没有报道。我们报告1例缺失9p综合征患儿,其表现为软硬腭裂、室间隔缺损、前额宽窄、中心长、眉毛高度拱起、双眼分离、睑裂上斜、鼻梁低平、颅骨三角形。在1岁零9个月时进行了推腭成形术。结论本报告有助于积累缺失9p综合征表型的相关报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of deletion 9p syndrome with soft and hard cleft palate
Abstract Background Deletion 9p syndrome is a rare structural chromosomal disorder. Various phenotypes of deletion 9p syndrome have been reported; however, cleft palate has not been reported in many cases. Case presentation We report the case of a child with deletion 9p syndrome with soft and hard cleft palate, ventricular septal defect, broad and narrow forehead, long philtrum, highly arched eyebrows, binocular dissection, upward‐slanting palpebral fissures, low flat nose, and triangular cranium. Pushback palatoplasty was performed at the age of 1 year and 9 months. Conclusion This report contributes to the accumulation of reports on the phenotype of deletion 9p syndrome.
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来源期刊
Oral Science International
Oral Science International DENTISTRY, ORAL SURGERY & MEDICINE-
CiteScore
1.00
自引率
20.00%
发文量
43
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