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目的 :报告一个少见的先天性常染色体显性遗传性疾病及其家系调查。该症的特点为头发卷曲 ,前正中上、下切齿先天性缺失 ,乳牙萌出时间延迟。方法 :收集该家族中个体的资料并采集血液标本对其进行分析。结果 :家族 5代 30多人中有 18人有头发卷曲、门齿先天性缺失表现。通过家系分析明确为常染色体显性遗传性疾病。经查新目前国内外尚未见有本症报告 ,属首例。结论 :本病与已报告的TDO、先天性外胚层发育不良及牙—甲综合征的临床表现有相似之处 ,但差异较大 ,这可能有 3种情况 :与已报道的TDO遗传基础相同 ,但临床表现不同 ;为TDO的新的另一种类型 ;是另一种疾病。有关基因改变情况有待进一步确定。
Objective: To report a rare congenital autosomal dominant genetic disease and its pedigree investigation. The disease is characterized by curly hair, before the median upper and lower incisors congenital absence, deciduous teeth eruption time delay. Methods: Individuals in this family were collected and blood samples were collected for analysis. Results: In the family 5 generations of more than 30 people have hair curly, incisor congenital absence of performance. Through pedigree analysis clearly autosomal dominant genetic disease. The investigation of the current at home and abroad have not seen this disease report, is the first case. CONCLUSIONS: This disease has similarities with the reported clinical manifestations of TDO, congenital ectodermal dysfunction and tooth-nail syndrome but varies widely, and may have three conditions: the same as the reported TDO genetic basis , But different clinical manifestations; another new type of TDO; is another disease. The genetic changes to be further confirmed.