title: [Fetal Escobar syndrome--a case report].
abstract: The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy resulting in the birth of a healthy newborn.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Olejniczak
authors.forename: Joanna
authors.initials: J
authors.lastname: Niepsuj-Biniaś
authors.forename: Dorota
authors.initials: D
authors.lastname: Rabiega-Gmyrek
authors.forename: Bogna
authors.initials: B
authors.lastname: Guglas-Bochyńska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Opala
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008305:Malignant Hyperthermia / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods; D012868:Skin Abnormalities / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal