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Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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) w...

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Hlavní autoři: Santana, Eduardo Felix Martins, Oliveira Serni, Priscila Nogueira, Rolo, Liliam Cristine, Júnior, Edward Araujo
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060403/
https://ncbi.nlm.nih.gov/pubmed/24987567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2156-7514.131642
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