Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.

Abstract	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.
Authors	Jaemin Ko, Jason H Pomerantz, Hazel Perry, Joseph T Shieh, Anne M Slavotinek, Snehlata Oberoi, Ophir D Klein
Journal	The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J) Vol. 57 Issue 1 Pg. 132-136 (01 2020) ISSN: 1545-1569 [Electronic] United States
PMID	31248274 (Publication Type: Case Reports, Journal Article)
Chemical References	Adenosine Triphosphatases
Topics	Abnormalities, Multiple Adenosine Triphosphatases Cleft Lip Cleft Palate Craniofacial Abnormalities Growth Disorders Heart Septal Defects, Ventricular Humans

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