The Liebenberg syndrome: in depth analysis of the original family.
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.
Jacaranda Hospital, Muckleneuk, Pretoria, South Africa umennen@icon.co.za.
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Mennen
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany FG Development & Disease, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
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Mundlos
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany FG Development & Disease, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
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Spielmann
D059327:Brachydactyly / Q000000981:diagnostic imaging* / Q000235:genetics*; D002348:Carpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004550:Elbow / Q000002:abnormalities / Q000000981:diagnostic imaging; D004551:Elbow Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D015321:Gene Rearrangement / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D021621:Imaging, Three-Dimensional; D008297:Male; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013019:South Africa; D013580:Synostosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014953:Wrist / Q000002:abnormalities / Q000000981:diagnostic imaging; D014955:Wrist Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging
D051761:Paired Box Transcription Factors; C101485:homeobox protein PITX1
Liebenberg Syndrome; PITX1 limb; arm to leg transformation; ectopic genetic PITX1 expression