Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome.
The prenatal ultrasonographic features found in two cases each of the Pena-Shokeir I and the trisomy 18 syndromes are described. All four cases were referred for ultrasonographic evaluation of polyhydramnios, clinically detected in the third trimester. A detailed ultrasonographic study of the craniofacial structures, intrathoracic organs, and limbs showed scalp edema, multiple ankyloses, camptodactyly, rocker-bottom feet, cardiac arrhythmias, and lung hypoplasia. Chromosome analysis showed trisomy 18 in two cases; in the other two cases the diagnosis of the Pena-Shokeir I was confirmed after delivery. The similarity of the two syndromes with respect to ultrasound findings is discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D006831:Polyhydramnios / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy; D014463:Ultrasonography