PDF(Pubmed)
Abstract：
UNASSIGNED: The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the SIN3A gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmental delay, intellectual disability, microcephaly, short stature, and subtle anomalies on brain magnetic resonance imaging (MRI). To date, about 50 patients have been reported in the medical literature.
UNASSIGNED: In this article, we reported a patient with classic findings of WITKOS including global developmental delay, microcephaly, hypotonia, vomiting, malnutrition, autistic and dysmorphic facial features, and cardiac abnormalities. Also, a barium esophagogram suggested severe motility disorder and gastroesophageal reflux disease. Affymetrix CytoScan 750K microarray showed a de novo 1.6-Mb deletion at 15q24.1q24.2, including the whole SIN3A gene. We have also summarized the clinical features of WITKOS patients in the medical literature and cardiac abnormalities detected in 4 out of 10 patients in studies that clearly state that cardiac examination was performed in the patients.
UNASSIGNED: Our findings showed that cardiac defects are not uncommon findings in WITKOS. Physicians should also be aware of reflux disease and motility disorder in patients with feeding difficulty together with early cardiac examination in terms of an improved quality of life in WITKOS patients.
UNASSIGNED: In this article, we reported a patient with classic findings of WITKOS including global developmental delay, microcephaly, hypotonia, vomiting, malnutrition, autistic and dysmorphic facial features, and cardiac abnormalities. Also, a barium esophagogram suggested severe motility disorder and gastroesophageal reflux disease. Affymetrix CytoScan 750K microarray showed a de novo 1.6-Mb deletion at 15q24.1q24.2, including the whole SIN3A gene. We have also summarized the clinical features of WITKOS patients in the medical literature and cardiac abnormalities detected in 4 out of 10 patients in studies that clearly state that cardiac examination was performed in the patients.
UNASSIGNED: Our findings showed that cardiac defects are not uncommon findings in WITKOS. Physicians should also be aware of reflux disease and motility disorder in patients with feeding difficulty together with early cardiac examination in terms of an improved quality of life in WITKOS patients.
摘要：
■Witteveen-Kolk综合征（WITKOS）（OMIM：613406）是一种由包含SIN3A基因（SIN3转录调节因子家族成员A）的致病变异或微缺失引起的异质性新兴疾病。它的特点是独特的面部特征，发育迟缓,智力残疾,小头畸形,身材矮小,和脑部磁共振成像（MRI）的细微异常。迄今为止,医学文献中已经报道了大约50名患者。
■在本文中，我们报道了一名WITKOS患者的经典发现，包括全球发育迟缓，小头畸形,低张力,呕吐,营养不良,自闭症和畸形的面部特征，和心脏异常。此外，食管钡造影提示严重运动障碍和胃食管反流病。AffymetrixCytoScan750K微阵列在15q24.1q24.2处显示从头1.6Mb缺失，包括整个SIN3A基因。我们还总结了医学文献中WITKOS患者的临床特征，以及在10例患者中有4例检测到的心脏异常，这些研究清楚地表明对患者进行了心脏检查。
■我们的研究结果表明，心脏缺陷在WITKOS中并不少见。医师还应意识到进食困难患者的反流疾病和运动障碍，并进行早期心脏检查，以改善WITKOS患者的生活质量。
■在本文中，我们报道了一名WITKOS患者的经典发现，包括全球发育迟缓，小头畸形,低张力,呕吐,营养不良,自闭症和畸形的面部特征，和心脏异常。此外，食管钡造影提示严重运动障碍和胃食管反流病。AffymetrixCytoScan750K微阵列在15q24.1q24.2处显示从头1.6Mb缺失，包括整个SIN3A基因。我们还总结了医学文献中WITKOS患者的临床特征，以及在10例患者中有4例检测到的心脏异常，这些研究清楚地表明对患者进行了心脏检查。
■我们的研究结果表明，心脏缺陷在WITKOS中并不少见。医师还应意识到进食困难患者的反流疾病和运动障碍，并进行早期心脏检查，以改善WITKOS患者的生活质量。
