Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip

Author:

Ko Jaemin1ORCID,Pomerantz Jason H.12,Perry Hazel1,Shieh Joseph T.3,Slavotinek Anne M.3,Oberoi Snehlata1,Klein Ophir D.13

Affiliation:

1. Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA

2. Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California San Francisco, San Francisco, CA, USA

3. Division of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA

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.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

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