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以“生长和语言发育迟缓”为临床表现的浮港综合征一例
Authors Yang YC, Tang Q, Yan LJ, Zhang SB, Ye XM, Gong D, Zou L, Wen XL
Received 31 August 2023
Accepted for publication 30 November 2023
Published 15 December 2023 Volume 2023:16 Pages 1091—1096
DOI https://doi.org/10.2147/PGPM.S433444
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Martin H Bluth
Background: Floating-Harbor syndrome (FHS) is a rare autosomal dominant inherited disease characterized primarily by short stature, delayed language development, and typical facial features. There are currently few case reports, diagnoses and treatments for these syndromes at home and abroad.
Case Description: This study reports a case of a boy with “growth and language development delay” as the predominant clinical manifestation. FHS was clinically diagnosed based on his growth hormone (GH) deficiency, significant bone age delay, left testicular hydrocele, and the whole exon gene in peripheral blood, which indicated heterozygous mutation of SRCAP gene. Following the treatment with recombinant human GH (rhGH), the child exhibited height increase benefits, and his articulation improved after language therapy.
Conclusion: Genetic testing facilitates early detection, diagnosis, and treatment of the FHS. Additionally, treatment with rhGH effectively increases the height of these children, and language rehabilitation is especially important for their language development.
Keywords: Floating-Harbor syndrome, language development, growth and development, rhGH, language rehabilitation