Yi-Can Yang, Qiong Tang, Li-Juan Yan, Shi-Bin Zhang, Xiao-Min Ye, Dai Gong, Li Zou, Xiang-Lan Wen
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...
2023: Pharmacogenomics and Personalized Medicine