Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip

被引：8
作者：
Ko, Jaemin [1 ,2 ]
Pomerantz, Jason H. [1 ,2 ,3 ]
Perry, Hazel [1 ,2 ]
Shieh, Joseph T. [4 ,5 ]
Slavotinek, Anne M. [4 ,5 ]
Oberoi, Snehlata [1 ,2 ]
Klein, Ophir D. [1 ,2 ,4 ,5 ]
机构：
[1] Univ Calif San Francisco, Dept Orofacial Sci, Program Craniofacial Biol, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Dept Orofacial Sci, Div Craniofacial Anomalies, San Francisco, CA 94143 USA
[3] Univ Calif San Francisco, Dept Surg, Div Plast & Reconstruct Surg, San Francisco, CA 94143 USA
[4] Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA
[5] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
来源：
CLEFT PALATE-CRANIOFACIAL JOURNAL | 2020年 / 57卷 / 01期
关键词：
genes; genetics; chromosome; Floating-Harbor syndrome; SRCAP; cephalometry; dental anomalies; CRANIAL BASE; FOLLOW-UP; ACTIVATOR PROTEIN; FACIAL GROWTH; SRCAP; PATIENT; MUTATIONS; ASSOCIATION; FEATURES; PALATE;
D O I：
10.1177/1055665619858257
中图分类号：
R78 [口腔科学];
学科分类号：
1003 ;
摘要：
Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The syndrome is characterized by proportional short stature, delayed bone maturation, delayed speech development, and facial dysmorphism. Submucous cleft palate and cleft lip have been reported in FHS, but to our knowledge orofacial clefting in this condition has not been assessed in detail. Here, we report on a case of bilateral cleft lip in a patient with FHS confirmed by exome sequencing.
引用
收藏
页码：132 / 136
页数：5
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