Case Reports

Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report

Abstract

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

Silva SR, Jeanty Ph. Roberts-SC phocomelia syndrome. 1999.http://www.sonoworld.com/fetus/page.aspx?id=370.

Sylvie Manouvrier-Hanu. Roberts syndrome. [Last update: September 2009, cited 7/14/2012] available from:http://www.orpha.net/consor/cgi-bin OC_Exp.php?Expert=3103.

Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Rouse DJ, Spong CY. editors .Williams Obstetrics. 23rd ed. New York, NY: McGraw Hill; 2010: 174-325.

James DK, Steer PJ, Weiner CP, Gonik B. High risk pregnancy management options.4rd ed. Philadelphia- Pennsylvania. Elsevier saunders. 2011:360.

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80:485-94.

Baraister M, Winter RM. A Colour Atlas of Clinical Genetics Wolfe medical atlases 1990:39.

Callen PW. Ultrasonography in Obstetrics and Gynecology. 5th Ed. Philadelphia, PA: Saunders Elsevier; 2008:464- 6.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Et al. The molecular mechanism underlying Roberts syndrome involves loss of Esco2 acetyltransferase activity. Hum mol genet. 2008; 17:2172–80. 9. Stanislawa Weremowicz,PhD; Cytogenetic abnormalities in the embryo, fetus, and infant; Nov 17, 2011; Wolters Kluwer Health; UptoDate;Available at:URL:http://www.uptodate.com/contents/cytogenetic-abnormalities-in-the-embryo-fetus-and-infant.

Files
IssueVol 7, No 1 (March 2013) QRcode
SectionCase Reports
Keywords
Autosomal Recessive Cleft Lip & Cleft Palate Phocomelia
Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Naghi I, Behnam B. Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. J Family Reprod Health. 2013;7(1):45-7.