Pharmacogenomics and Personalized Medicine (Dec 2023)
A Case of Floating-Harbor Syndrome with “Growth and Language Development Delay” as Its Clinical Manifestation
Abstract
Yi-Can Yang,1 Qiong Tang,1 Li-Juan Yan,1 Shi-Bin Zhang,2 Xiao-Min Ye,1 Dai Gong,1 Li Zou,1 Xiang-Lan Wen1 1Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou City, Hunan Province, 412007, People’s Republic of China; 2Department of Pediatrics, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou City, Hunan Province, 412007, People’s Republic of ChinaCorrespondence: Xiang-Lan Wen, Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, No. 116 of Changjiang South Road, Tianyuan District, Zhuzhou City, Hunan Province, 412007, People’s Republic of China, Tel/Fax +8673128561905, Email [email protected]: 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
