先天缺指(趾)-外胚叶发育不良-唇/腭裂综合征的病例研究

目的：探讨先天缺指（趾）-外胚叶发育不良-唇／腭裂综合征（EEC）的临床表型和遗传学特点。方法：收集具有典型症状的EEC病例并进行家系问卷和口腔检查，观察各家系患者的临床表型和发病特点，分析可能的遗传方式，绘制系谱图。结果：研究收集的2个EEC病例均未追溯到明显家族遗传史，患者均表现出明显的双侧多个缺指（趾），并指，唇／腭裂，家系2患者有毛发稀疏，指甲无光泽等明显外胚层发育不良表型，符合典型的EEC综合征。2名不同患者的严重程度存在明显差异。结论：收集的2个患者均属典型的散发EEC病例，临床的早期检查和正确诊断对后期治疗具有重要意义。

Cases Study of Chinese Kindreds with Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/palate Syndrome

Objective:To investigate the clinical and genetic features of ectrodactyly,ectodermal dysplasia and cleft lip/palate syndrome(EEC) in Chinese kindreds.Methods: Pedigrees were collected through the identified probands.Questionnaires and careful oral examinations were taken by independent dentists with extended interview of family members.Clinical manifestations between and within each family were recorded.Possible inheritance modes were analysed.Results: Of two patients investigated,sporadic cases without family history were suggested.Patient in family 2 had typical EEC sympotoms with bilateral ectodactyly,syndactyly,facial clefts,sparse hair and nail dystrophy.Interfamilial difference was observed.Conclusion: The patients collected in our study were diagnosed as EEC syndrome.Early examination and correct diagnosis are great important to the future treatments.