Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy.
This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000354:Africa, Western / Q000208:ethnology; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D006831:Polyhydramnios / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal