先天性缺指（趾）-外胚层发育不良-唇/腭裂综合征的临床研究

目的探讨先天缺指（趾）-外胚层发育不良-唇/腭裂综合征的临床表现,诊断标准,遗传学特点及治疗措施。方法 2008年3月至2009年9月收集先天缺指（趾）-外胚层发育不良-唇/腭裂综合征女性患者一例,针对上唇缺损行手术修补,对其进行家系问卷和DNA检查,观察患者的临床表型和发病特点,分析可能的遗传方式。结果术后患者伤口愈合良好,无并发症发生,此例患者随访半年,术后明显改善了患者的外观,研究收集的这个典型病例未追溯到明显家族遗传史。结论收集的一个患者属典型的散发病例,通过对该患者的诊疗,证明治疗应是多学科的,主要是针对外观进行整形外科手术,临床的早期检查和正确诊断对后期治疗具有重要意义。产前诊断意义尤为重大。

The clinical study of ectrodactyly-ectodermal dysplasia-cleft lip /palate syndrome

Object：To investigate the clinical manifests,diagnostic criteria,genetical characters and therapeutic measure.Method：From March 2008 to September 2009,collecting one female patient of 12 years old,the patient has apparent ectrodactyly,lip defect and ectodermal dysplasia.Treating her lip defect with the plastic surgery and also collecting family constellation questionnaire and running the DNA test to analyse the possible mode of inheritance.Result：The surgery improved the appearance of the patient,but the DNA test can not trace the obvious family inheritance.Conclusion：The patient that collected is a typical sporadic case.Through the diagnose and treatment to the patient,it is proved that treatment should be multidisciplinary,but the most important treatment is the plastic surgery aiming at the appearance.In the sametime,early test and correct diagnose are important to later treatment.The most meaningful thing is the prenatal diagnosis.