Ko Jaemin, Pomerantz Jason H, Perry Hazel, Shieh Joseph T, Slavotinek Anne M, Oberoi Snehlata, Klein Ophir D
Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.
Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California San Francisco, San Francisco, CA, USA.
Cleft Palate Craniofac J. 2020 Jan;57(1):132-136. doi: 10.1177/1055665619858257. Epub 2019 Jun 27.
Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein () 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.
弗洛廷-哈伯综合征（FHS）是一种罕见的遗传性疾病，由与Snf2相关的CREBBP激活蛋白（）基因的杂合突变引起。该综合征的特征是身材比例矮小、骨骼成熟延迟、语言发育迟缓以及面部畸形。FHS患者中曾有腭黏膜下裂和唇裂的报道，但据我们所知，尚未对这种情况下的口腔颌面部裂隙进行详细评估。在此，我们报告一例经外显子组测序确诊为FHS的双侧唇裂患者。
