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  • Title: Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome.
    Author: Muller LM, de Jong G.
    Journal: Am J Med Genet; 1986 Sep; 25(1):119-29. PubMed ID: 3541607.
    Abstract:
    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.
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