title: Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery.
abstract: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.
authors.affiliation: Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital General Gregorio Marañón, Universidad Complutense de Madrid, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Bravo
authors.forename: F
authors.initials: F
authors.lastname: Gámez
authors.forename: R
authors.initials: R
authors.lastname: Pérez
authors.forename: A
authors.initials: A
authors.lastname: Águarón
authors.forename: J
authors.initials: J
authors.lastname: De León-Luis
mesh_terms: D000015:Abnormalities, Multiple; D000783:Aneurysm / Q000000981:diagnostic imaging*; D018376:Cardiovascular Abnormalities / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D003680:Deglutition Disorders / Q000000981:diagnostic imaging*; D042241:Early Diagnosis; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D011247:Pregnancy; D058496:Smith-Magenis Syndrome / Q000000981:diagnostic imaging*; D013348:Subclavian Artery / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal