Mennen U, Mundlos S, Spielmann M
Jacaranda Hospital, Muckleneuk, Pretoria, South Africa
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany FG Development & Disease, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
J Hand Surg Eur Vol. 2014 Nov;39(9):919-25. doi: 10.1177/1753193413502162. Epub 2013 Aug 12.
The Liebenberg syndrome was first described in 1973 in a five- generation family. A sixth generation was added in 2001, and in 2009 a hitherto unknown branch of the same family with similar anomalies extended the family tree significantly. This article describes the clinical findings and illustrates the abnormalities with radiographs and three-dimensional computed tomography scans. We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients.
利本贝格综合征于1973年在一个五代家族中首次被描述。2001年增加了第六代，2009年，同一家族中一个此前未知的具有相似异常情况的分支显著扩展了家族谱系。本文描述了临床发现，并用X光片和三维计算机断层扫描展示了异常情况。我们讨论了导致利本贝格综合征的基因异常，即5号染色体上PITX1基因座的基因组重排。这种结构变异似乎导致了成对样同源结构域转录因子1（PITX1）在前肢异位表达，从而在这些患者中引起了部分手臂到腿部的转变。
