title: Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging.
abstract: Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented.
authors.affiliation: Department of Radiology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey.
authors.forename: Efsun Urger
authors.initials: EU
authors.lastname: Senocak
authors.forename: Kader Karli
authors.initials: KK
authors.lastname: Oguz
authors.forename: Goknur
authors.initials: G
authors.lastname: Haliloglu
authors.forename: Deniz
authors.initials: D
authors.lastname: Karcaaltincaba
authors.forename: Deniz
authors.initials: D
authors.lastname: Akata
authors.forename: Omer
authors.initials: O
authors.lastname: Kandemir
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009421:Nervous System Malformations / Q000175:diagnosis*; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D014463:Ultrasonography / Q000379:methods*