title: Potocki-Lupski syndrome in conjunction with bilateral clubfoot.
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.
authors.affiliation: aDepartment of Orthopaedic Surgery, NYU Hospital for Joint Diseases bDepartment of Pediatric Orthopaedic Surgery, Center for Children, NYU Hospital for Joint Diseases cNYU Department of Pediatrics, Human Genetics Division.
authors.forename: Dinesh
authors.initials: D
authors.lastname: Dhanaraj
authors.forename: Alice
authors.initials: A
authors.lastname: Chu
authors.forename: John G
authors.initials: JG
authors.lastname: Pappas
authors.forename: Ellen
authors.initials: E
authors.lastname: Moran
authors.forename: Wallace B
authors.initials: WB
authors.lastname: Lehman
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000628:therapy; D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D058674:Chromosome Duplication; D003025:Clubfoot / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male