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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。
Objective To investigate the clinical manifestations, diagnostic criteria, genetics and treatment of congenital lameness (edema) - ectodermal dysplasia - lip / palate syndrome. Methods From March 2008 to September 2009, a female patient with congenital amebiasis - ectodermal dysplasia - cleft lip and palate syndrome was collected. Surgical repair of the upper lip defect was performed. Pediatric questionnaires and DNA tests were performed. The patients The clinical phenotype and incidence characteristics, analysis of possible genetic methods. Results The postoperative wound healing was good and no complication occurred. The patient was followed up for six months and the appearance of the patient was significantly improved. The typical case collected from this study did not trace back to obvious family history. Conclusion One patient collected is a typical case of sporadic cases. Through the diagnosis and treatment of this patient, it is proved that the treatment should be multidisciplinary. The plastic surgery is mainly aimed at the appearance. Early clinical examination and correct diagnosis are of great significance to the later treatment. Prenatal diagnosis is particularly significant.