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Article ; Online: Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging.

Senocak, Efsun Urger / Oguz, Kader Karli / Haliloglu, Goknur / Karcaaltincaba, Deniz / Akata, Deniz / Kandemir, Omer

Pediatric radiology

2009  Volume 39, Issue 4, Page(s) 377–380

Abstract: Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or ...

Abstract Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented.
MeSH term(s) Abnormalities, Multiple/diagnosis ; Fetal Growth Retardation/diagnosis ; Humans ; Magnetic Resonance Imaging/methods ; Nervous System Malformations/diagnosis ; Prenatal Diagnosis/methods ; Syndrome ; Ultrasonography/methods
Language English
Publishing date 2009-02-05
Publishing country Germany
Document type Case Reports ; Journal Article
ZDB-ID 124459-0
ISSN 1432-1998 ; 0301-0449
ISSN (online) 1432-1998
ISSN 0301-0449
DOI 10.1007/s00247-008-1121-5
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