Potocki-Lupski syndrome in conjunction with bilateral clubfoot

Journal of Pediatric Orthopedics. Part B
Dinesh DhanarajWallace B Lehman

Abstract

Potocki-Lupski syndrome (PTLS) is a rare chromosomal microduplication syndrome resulting in multiple congenital abnormalities including developmental delays, autistic features, and certain structural anomalies, with cardiovascular being the most common. The phenotype of this contiguous gene duplication syndrome is quite variable and may include musculoskeletal abnormalities. Given the infrequency and novelty of this disorder, full phenotypic characterization of PTLS has not yet been fully elucidated. We present a case of severe bilateral clubfoot in a patient with PTLS. Diagnosis was made by array-based comparative genomic hybridization and confirmed by fluorescence in-situ hybridization. Because clubfoot was also present in an apparently unaffected brother, the presence of PTLS may have acted as a modifier of the phenotype. This report highlights the complex interaction of chromosomal and familial factors that contribute to musculoskeletal birth defects.

References

Apr 20, 2004·The Journal of the American Academy of Orthopaedic Surgeons·David P Roye, Benjamin D Roye
Jun 11, 2008·Clinical Dysmorphology·Judy MartinUsha Kini
Sep 25, 2010·Journal of Pediatric Orthopedics·Alice ChuWallace B Lehman
Dec 21, 2010·The Journal of Pediatrics·Claudia Soler-AlfonsoLorraine Potocki
Jan 29, 2011·American Journal of Medical Genetics. Part a·Roman YusupovAzra H Ligon
Aug 6, 2011·Journal of Pediatric Orthopedics. Part B·Matthew B Dobbs, Christina A Gurnett
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·John L JefferiesLorraine Potocki
Sep 20, 2012·Journal of Pediatric Orthopedics. Part B·Chien-Chung KuoNien-Ying Tsai
Dec 7, 2013·American Journal of Medical Genetics. Part a·Pilar L MagoulasLorraine Potocki
Mar 15, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lindsay B HendersonDenise A S Batista

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Citations

May 9, 2019·American Journal of Medical Genetics. Part a·Alberto VaronKatherina Walz

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