Doğan Özlem Akgün, Şimşek Kiper Pelin Özlem, Utine Gülen Eda, Alikaşifoğlu Mehmet, Boduroğlu Koray
Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Korean J Fam Med. 2017 Mar;38(2):102-105. doi: 10.4082/kjfm.2017.38.2.102. Epub 2017 Mar 22.
Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.
威廉姆斯综合征（OMIM #194050）是一种罕见的、广为人知的多系统遗传性疾病，发病率约为1/7500。威廉姆斯综合征的发病率在各地区无明显差异。该综合征由大约28个基因的半合子缺失引起，包括位于7号染色体q11.2区域的基因。产前生长迟缓、独特的面部外观、心血管异常以及独特的过度社交行为是最常见的临床特征。在此，我们报告一例因独特面部特征和智力残疾前来就诊的患者，该患者在37岁时被诊断为威廉姆斯综合征。我们的目的是提高成年医疗保健提供者对这种可识别综合征的诊断特征和并发症的认识。威廉姆斯综合征通常在婴儿期或儿童期被诊断，但在没有心血管异常、高钙血症和认知障碍等典型表现的情况下，诊断可能会延迟。由于该综合征具有多系统和进行性的特点，准确诊断对于适当的护理以及筛查可能影响患者健康和福祉的相关疾病至关重要。
