title: Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography.
abstract: Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28(th) week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.
authors.affiliation: Department of Obstetrics, Federal University of Sāo Paulo, Sāo Paulo-SP, Brazil.
authors.forename: Eduardo Felix Martins
authors.initials: EF
authors.lastname: Santana
authors.affiliation: Department of Obstetrics, Federal University of Sāo Paulo, Sāo Paulo-SP, Brazil.
authors.forename: Priscila Nogueira
authors.initials: PN
authors.lastname: Oliveira Serni
authors.affiliation: Department of Obstetrics, Federal University of Sāo Paulo, Sāo Paulo-SP, Brazil.
authors.forename: Liliam Cristine
authors.initials: LC
authors.lastname: Rolo
authors.affiliation: Department of Obstetrics, Federal University of Sāo Paulo, Sāo Paulo-SP, Brazil.
authors.forename: E
authors.initials: E
authors.lastname: Araujo Júnior
keywords: Arthogriposis; Pena-Shokeir syndrome; prenatal diagnosis; three-dimensional ultrasound; two-dimensional ultrasound