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LEOPARD syndrome: You could be the first one to diagnose!

机译:LEOPARD综合征:您可能是第一个进行诊断的人!

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摘要

Leopard syndrome is a rare genetic disease complex associated with multiple anomalies. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to mnemonic for the major features of this disorder:multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensory neural Deafness. A Four year old male patient reported with the chief complaint of decayed anterior tooth without any relevant past medical history. Based on the clinical features; the child was subjected to genetic and general physical appraisal which helped in identifying Leopard syndrome. A multidisciplinary approach by the pedodontist and medical consultants aided in the identification and management of this rare syndrome. LEOPARD syndrome has been rarely reported in the diseases associated with oro-dental or craniofacial anomalies. In this case report we describe these anomalies and discuss the relationship between them and the proposed etiology of the disease.
机译:豹综合症是与多种异常相关的罕见遗传疾病。主要异常概括在首字母缩写词LEOPARD中,其中每个字母对应于该疾病主要特征的助记符:多个Lentigines,ECG传导异常,眼部超张主义,肺部狭窄,生殖器异常,发育迟缓和感觉神经性耳聋。一名四岁男性患者主诉前牙腐烂,无任何相关的既往病史。根据临床特点;对该孩子进行了遗传和一般的身体评估,这有助于识别豹纹综合症。牙齿矫正专家和医学顾问采取的多学科方法有助于识别和管理这种罕见综合征。与口腔-牙齿或颅面异常有关的疾病很少报道LEOPARD综合征。在本例报告中,我们描述了这些异常,并讨论了它们与疾病的病因学之间的关系。

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