Department of Pediatrics, Balikesir University, Faculty of Medicine, Balikesir, Turkey.
Department of Pediatrics, Faculty of Medicine, Adiyaman University, Adiyaman, Turkey.
J Coll Physicians Surg Pak. 2022 Apr;32(4):S76-S78. doi: 10.29271/jcpsp.2022.Supp1.S76.
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, prognathism, lip and eyebrow shape anomalies. The true prevalence of KS is unknown, but it is estimated that it occurs with a frequency of 1/200.000 in cases with mental retardation. On literature search, approximately 110 patients have been reported so far. Genetic analysis should be planned and interdisciplinary monitoring should be provided in cases suspected to have KS. Key Words: Child, Genetic disorder, Kleefstra Syndrome, Dysmorphism.
克莱夫斯特拉综合征（KS），以前称为 9q 端粒下缺失综合征（9qSTDS），其特征是中度至重度发育迟缓/智力障碍、儿童时期的低张力和短头畸形（主要临床表型）、中面部发育不全、下颌前突、唇和眉毛形状异常。KS 的真实患病率尚不清楚，但据估计，在智力障碍患者中，其发病率为 1/200,000。在文献检索中，迄今已报告了大约 110 例患者。疑似患有 KS 的病例应计划进行基因分析并提供跨学科监测。 关键词：儿童；遗传性疾病；克莱夫斯特拉综合征；畸形。
