Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena-Shokeir phenotype.
Ultrasound
; 25(2): 115-119, 2017 May.
Article
in En
| MEDLINE
| ID: mdl-28567106
ABSTRACT
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype. Karyotyping was performed to exclude fetal chromosomal anomalies. Antenatal ultrasonography is an essential tool in the diagnosis of Pena-Shokeir phenotype while fetal magnetic resonance imaging is necessary to identify any associated anomalies of central nervous system.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
/
Prognostic_studies
Language:
En
Journal:
Ultrasound
Year:
2017
Type:
Article
Affiliation country:
Vietnam