| 李爽,李海浪,李薇.Wolf?Hirschhorn综合征 1例[J].安徽医药,2019,23(12):2444-2446. |
| Wolf?Hirschhorn综合征 1例 |
| A case of Wolf?Hirschhorn syndrome |
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| DOI：10.3969/j.issn.1009?6469.2019.12.028 |
| 中文关键词: Wolf?Hirschhorn综合征 染色体，人， 4对 肌张力过低 面容 智力障碍 癫痫 基因检测 |
| 英文关键词: Wolf?Hirschhorn syndrome Chromosomes,human,pair 4 Muscle hypotonia Facies Intellectual disability Epilepsy Genetic testing |
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| 摘要点击次数: 2006 |
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| 中文摘要: |
| 目的探讨 Wolf?Hirschhorn综合征的临床特征及诊断方法。方法收集 1例于 2016年 10月 14日南京明基医院确诊为 Wolf?Hirschhorn综合征病儿的病例，回顾性分析其临床特征、实验室及器械检查、治疗与转归并进行相关文献的复习。结果病儿因“胎龄 38周，出生体质量 1 970 g，肌张力低 8 min。”入院， 6月龄时因“发热 6h，抽搐 0.5 h。”再次入院，给予镇静、止惊等治疗，症状缓解。病儿特殊面容、尿道发育异常、先天性心脏病、生长发育迟缓、智力障碍，同时癫痫频繁发作，通过基因检测确诊 Wolf?Hirschhorn综合征。病儿经常抽搐，生长发育迟缓、智力障碍。结论 Wolf?Hirschhorn综合征主要临床特征有特殊面容、生长迟缓、智力障碍和癫痫发作等。根据病儿临床特征可作出初步诊断，但仍需基因检测确诊。 |
| 英文摘要: |
| Objective To investigate the clinical characteristics，diagnostic methods and prognosis of Wolf?Hirschhorn syndrome. Methods The clinical features，Laboratory and instrumental examination results，treatment and prognosis of a case confirmed was collected and the literatures reviewed.Results The child was admitted to hospital because of "gestational age 38 weeks，birth weight 1 970 g，and muscle hypotonia 8 minutes."，and because of "fever 6 hours，convulsion half an hour." readmitted at the half? year?old.Symptoms are relieved by treatment such as sedation and anti?shock.The child with special face，abnormal urethra，congeni? tal heart disease，growth retardation，mental retardation，and frequent epileptic seizures was diagnosed as Wolf?Hirschhorn syndromeby genetic testing.The current state of the child is frequent convulsions，growth retardation，and mental retardation.Conclusion The Wolf?Hirschhorn syndrome is caused by a microdeletion of the short arm of chromosome 4(4p16.3).The greater loss，the more se? vere congenital malformation and the higher mortality rate.The main clinical features are special face，growth retardation，mental re? tardation and seizures.With the increase of age，the severity of seizures gradually weakens，and some children stop seizures in ado? lescence.This disease needs to be confirmed by genetic testing. |
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