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

2019
https://researcherprofiles.org/profile/58648482
31248274
Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD
Abstract

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.

Journal Issue
Volume 57 of Issue 1