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 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.
Keywords: Floating-Harbor syndrome, growth hormone therapy, short stature
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References
Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH. The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. Korean J Pediatr. 2018;61:403-406. Epub 2018 Sep 16
Son HW, Lee JE, Oh SH, Keum C, Chung WY. Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. Ann Pediatr Endocrinol Metab. 2020;25:126-131. Epub 2020 Jun 30
Łaczmańska I, Kuliczkowska-Płaksej J, Stembalska A. Short stature in genetic syndromes: selected issues. Adv Clin Exp Med. 2018;27:409-414.
Zenker M, Edouard T, Blair JC, Cappa M. Noonan syndrome: improving recognition and diagnosis. Arch Dis Child. 2022;107:1073-1078. Epub 2022 Mar 4
Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. Am J Med Genet A. 2019;179:1157-1172. Epub 2019 Apr 13
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr. 2015;41:4.
Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenetics. 2020;12:86.
Bo H, Jiang L, Zheng J, Sun J. Floating-Harbor syndrome treated with recombinant human growth hormone: a case report and literature review. Front Pediatr. 2021;9:747353.
Turkunova ME, Barbitoff YA, Serebryakova EA, Polev DE, Berseneva OS, Bashnina EB, Baranov VS, Glotov OS, Glotov AS. Molecular genetics and pathogenesis of the Floating Harbor syndrome: case report of long-term growth hormone treatment and a literature review. Front Genet. 2022;13:846101.
Stagi S, Galluzzi F, Bindi G, Lapi E, Cecchi C, Salti R, Chiarelli F. Precocious puberty in a girl with Floating-Harbor syndrome. J Pediatr Endocrinol Metab. 2007;20:1333-1337.
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL. Growth and clinical characteristics of children with Floating-Harbor syndrome: analysis of current original data and a review of the literature. Horm Res Paediatr. 2019;92:115-123. Epub 2019 Nov 12
Galli-Tsinopoulou A, Kyrgios I, Emmanouilidou E, Maggana I, Kotanidou E, Kokka P, Stylianou C. Growth hormone deficiency: an unusual presentation of Floating Harbor syndrome. Hormones (Athens). 2011;10:236-240.
