Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.
A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:459-462, 2016.
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
Sirida
S
Pittyanont
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
Phudit
P
Jatavan
Department of Pathology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, 50200, Thailand.
Songkiat
S
Suwansirikul
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
Theera
T
Tongsong
D000161:Acoustic Stimulation / Q000379:methods*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000000981:diagnostic imaging*; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D011247:Pregnancy; D050497:Stillbirth; D016216:Ultrasonography, Prenatal / Q000379:methods*
Pena-Shokeir sequence; acoustic stimulation; fetal akinesia; fetal malformations; prenatal diagnosis; ultrasound