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Case report


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

Eduardo Felix Martins SantanaPriscila Nogueira Oliveira SerniLiliam Cristine RoloE Araujo Júnior
Department of Obstetrics, Federal University of São Paulo, São Paulo‑SP, Brazil
Date of Submission: 30-Jan-2014, Date of Acceptance: 30-Mar-2014, Date of Web Publication: 29-Apr-2014.
Corresponding Author:
Corresponding Author

Edward Araujo Júnior

Department of Obstetrics, Federal University of São Paulo, Rua Carlos Weber, 956, apto. 113 Visage, Vila Leopoldina, São Paulo - SP, CEP 05303‑000, Brazil.
E-mail: araujojred@terra.com.br

Corresponding Author:
Corresponding Author

Edward Araujo Júnior

Department of Obstetrics, Federal University of São Paulo, Rua Carlos Weber, 956, apto. 113 Visage, Vila Leopoldina, São Paulo - SP, CEP 05303‑000, Brazil.
E-mail: araujojred@terra.com.br

DOI: 10.4103/2156-7514.131642 Facebook Twitter Google Linkedin

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.
Keywords: Arthogriposis, Pena-Shokeir Syndrome, Prenatal Diagnosis, Three-dimensional Ultrasound, Two-dimensional Ultrasound

Cited in 4 Documents

  1. Ghazalla K Ajali, Hamed Orafi and Hamed Orafi (2018) Case report and review of literature of an infant with Pena-Shokeir syndrome. JDHODT 9(3):. doi: 10.15406/jdhodt.2018.09.00363
  2. Amy Bildner and Daniel Jackson (2018) Prenatal Sonographic Detection of Multiple Congenital Anomalies: A Case of Severe Arthrogryposis Multiplex Congenita (AMC). Journal of Diagnostic Medical Sonography 34(2):138. doi: 10.1177/8756479317743208
  3. Edward Araujo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong and Waldo Sepulveda (2017) Prenatal Diagnosis of Orofacial Malformations. (Chapter 7):105. doi: 10.1007/978-3-319-32516-3_7
  4. Astrid Hellmund, Christoph Berg, Annegret Geipel, Annette Müller and Ulrich Gembruch (2016) Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. Arch Gynecol Obstet 294(4):697. doi: 10.1007/s00404-016-4017-x

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