作者
Hans-Joachim Mentzel, Jörg Seidel, Dieter Sauner, Susanna Vogt, Clemens Fitzek, Felix Zintl, Werner A Kaiser
发表日期
2002/8
期刊
European journal of pediatrics
卷号
161
页码范围
455-459
出版商
Springer-Verlag
简介
Poland syndrome (PS) (OMIM 173800) is a rare congenital anomaly classically consisting of the combination of unilateral aplasia of the sternocostal head of the major pectoral muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. The aetiology is most probably a vascular disruption sequence of the subclavian arteries. In most cases, PS is sporadic. Familial occurrence suggests that genes exist which are involved in the pathogenesis as paradominant traits. The syndrome may include mammary hypoplasia and further muscle abnormalities which can be accurately defined by sonography and MRI. The evaluation of the vascular status can be performed using colour coded duplex sonography for peripheral arteries and contrast-enhanced MR-angiography for supra-aortic arteries. Conclusion: We report a 7-year-old girl with unilateral right sided Poland syndrome with particular …
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学术搜索中的文章
HJ Mentzel, J Seidel, D Sauner, S Vogt, C Fitzek, F Zintl… - European journal of pediatrics, 2002