Son Hyun Woo, Lee Jeong Eun, Oh Seung Hwan, Keum Changwon, Chung Woo Yeong
1 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea.
Department of Diagnostic Laboratory Medicine, Inje University Busan Paik Hospital, Busan, Korea.
Ann Pediatr Endocrinol Metab. 2020 Jun;25(2):126-131. doi: 10.6065/apem.1938144.072. Epub 2020 Jun 30.
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
弗洛廷 - 哈伯综合征是一种罕见的常染色体显性疾病，其特征包括身材矮小、面部畸形、骨龄显著延迟、骨骼异常、言语和语言问题以及智力障碍。尽管身材矮小是主要临床表现之一，但弗洛廷 - 哈伯综合征患者使用生长激素治疗一直受到限制。仅有少数报告研究了生长激素治疗对最终成人身高的反应。我们报告了一名7岁患有弗洛廷 - 哈伯综合征的女孩病例，其SRCAP基因存在杂合突变c.7330C＞T（p.Arg2444*）。该患者表现出面部畸形特征、严重智力障碍、强迫和攻击行为，且身材矮小但无生长激素缺乏。经过55个月的生长激素治疗后，她的身高标准差评分有所改善。
