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Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.
- Source :
-
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Jan 17. Date of Electronic Publication: 2024 Jan 17. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
-
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.7303C>T (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.
Details
- Language :
- English
- ISSN :
- 1308-5735
- Database :
- MEDLINE
- Journal :
- Journal of clinical research in pediatric endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 38230957
- Full Text :
- https://doi.org/10.4274/jcrpe.galenos.2024.2023-12-12