PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■浮港综合征（FHS）是一种罕见的常染色体显性遗传病，主要以身材矮小为特征，语言发育迟缓，和典型的面部特征。目前病例报告很少,国内外对这些综合征的诊断和治疗。
■本研究报告了一例以“生长和语言发育迟缓”为主要临床表现的男孩。FHS是根据他的生长激素（GH）缺乏症进行临床诊断的，显著的骨龄延迟，左睾丸鞘膜积液,和外周血中的整个外显子基因，提示SRCAP基因杂合突变。用重组人GH（rhGH）治疗后，孩子表现出身高增加的好处，语言治疗后他的发音有所改善。
■基因检测有助于早期发现，诊断,和FHS的治疗。此外,用rhGH治疗有效地增加了这些孩子的身高，语言康复对他们的语言发展尤为重要。
■本研究报告了一例以“生长和语言发育迟缓”为主要临床表现的男孩。FHS是根据他的生长激素（GH）缺乏症进行临床诊断的，显著的骨龄延迟，左睾丸鞘膜积液,和外周血中的整个外显子基因，提示SRCAP基因杂合突变。用重组人GH（rhGH）治疗后，孩子表现出身高增加的好处，语言治疗后他的发音有所改善。
■基因检测有助于早期发现，诊断,和FHS的治疗。此外,用rhGH治疗有效地增加了这些孩子的身高，语言康复对他们的语言发展尤为重要。
