鼻皮样窦囊肿的遗传方式及与第三脑室胶样囊肿相关的证据。
Inheritance of nasal dermoid sinus cyst and evidence for association with third ventricle colloid cyst.
作者信息
Saarinen Ira, Karppinen Atte, Saarinen Pia, Hytönen Maija, Klockars Tuomas
机构信息
Department of Plastic Surgery, Helsinki University Central Hospital, 00029 Helsinki, Finland.
出版信息
Childs Nerv Syst. 2012 Jan;28(1):117-20. doi: 10.1007/s00381-011-1526-6. Epub 2011 Jul 20.
PURPOSE
The purpose of this paper is to study the possible inheritance of nasal dermoid sinus cyst in the Finnish population.
METHODS
A patient questionnaire and interview were utilized for this study.
RESULTS
We identified nine patients with dermoid sinus cyst. Only one of them had familial nasal dermoid sinus cyst. We found no evidence for founder effect.
CONCLUSIONS
We report a pedigree with six affected individuals and an association of nasal dermoid sinus cyst and third ventricle colloid cyst. Whether patients or pedigrees with nasal dermoid sinus cyst (NDSC) and third ventricle colloid cysts represent a previously unrecognized syndrome or belong to the normal phenotypic spectrum of NDSC remains unclear. Our patient material suggests that only minority of NDSCs seem to be familial.
目的
本文旨在研究芬兰人群中鼻皮样窦囊肿的可能遗传方式。
方法
本研究采用患者问卷和访谈的方式。
结果
我们确定了9例皮样窦囊肿患者。其中只有1例有家族性鼻皮样窦囊肿。我们没有发现奠基者效应的证据。
结论
我们报告了一个有6名受累个体的家系，以及鼻皮样窦囊肿与第三脑室胶样囊肿的关联。鼻皮样窦囊肿（NDSC）患者或家系与第三脑室胶样囊肿是代表一种以前未被认识的综合征，还是属于NDSC的正常表型范围，目前尚不清楚。我们的患者资料表明，只有少数NDSC似乎是家族性的。
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