title: Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging.
abstract: A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic examinations at 26 and 28.5 weeks demonstrated polyhydramnios and multiple skeletal, brain, and facial abnormalities. Magnetic resonance imaging, performed to further evaluate the fetal brain, confirmed the sonographic findings. However, MRI was not useful in further differentiating the diagnosis. A 1024-g, premature male fetus was delivered at 30 weeks' gestation and died within 30 minutes of delivery. The fetus had multiple congenital anomalies consistent with Pena-Shokeir syndrome type I.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014463:Ultrasonography