Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
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Case Report
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17 January 2024

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

J Clin Res Pediatr Endocrinol. Published online 17 January 2024.
1. Department of Pediatric Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul 05355, Republic of Korea
No information available.
No information available
Received Date: 13.12.2023
Accepted Date: 10.01.2024
E-Pub Date: 17.01.2024
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Abstract

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 Floating- Harbor syndrome. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty. Targeted exome sequencing revealed a heterozygous mutation, C.7303OT (p.Arg2435Ter), in the SRCAP gene, confirming a diagnosis of Floating- Harbor syndrome. She responded well to human recombinant growth hormone and gonadotropin-releasing hormone (GnRH) agonist, effectively suppressing bone maturation and improving her height SDS from -4.6 to -2.4.

Keywords:
Floating-Harbor syndrome, Growth Hormone Therapy, Short Statue