ArticleJournal of clinical research in pediatric endocrinology2026
Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
Article in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor SyndromeJournal of clinical research in pediatric endocrinology · 2026Article
- Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.BMC pediatrics · 2025Review
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Authors and funding
3 authors.
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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 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
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