Jooyoung JEON, Eu-seon NOH, Il Tae HWANG
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(1):176-180
Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionately short stature, lack of expressive language, and distinctive facial features, including a large nose, long eyelashes, deeply set eyes, and a triangular face. We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with FHS. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty. Targeted exome sequencing revealed a heterozygous mutation, c.7303C>T (p.Arg2435Ter), in the SRCAP gene, confirming a diagnosis of FHS. She responded well to human recombinant growth hormone and gonadotropin-releasing hormone agonist, effectively suppressing bone maturation and improving her height standard deviation score from -4.6 to -2.4.
