Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. (January 2020)

• Record Type: Journal Article
• Authors: Ko, Jaemin; Pomerantz, Jason H.; Perry, Hazel; Shieh, Joseph T.; Slavotinek, Anne M.; Oberoi, Snehlata; Klein, Ophir D.
• Is Part Of: Cleft palate-craniofacial journal. Volume 57:Number 1(2020)
• Page Start: 132
• Page End: 136
• Publication Date: 2020-01
• Subjects: genes -- genetics -- chromosome -- Floating-Harbor syndrome -- SRCAP -- cephalometry -- dental anomalies; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1177/1055665619858257
• Languages: English
• ISSNs: 1055-6656

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.