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Paper Information

Journal:   JOURNAL OF RAFSANJAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES   SPRING 2011 , Volume 10 , Number 1 (38); Page(s) 75 To 81.
 
Paper: 

ROBERTS-SC PHOCOMELIA (PSEUDOTHALIDOMIDE SYNDROME) (A CASE REPORT)

 
 
Author(s):  KEYPOUR F.*, NAGHI I.
 
* DEPT. OF GYNECOLOGY, TEHRAN UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
 
Abstract: 

Background and Objectives: Roberts syndrome (pseudothalidomide) is a rare developmental disorder characterized by multiple malformations, in particular symmetrical limb reduction (phocomelia), craniofacial anomalies such as bilateral cleft lip and cleft palate, and is a genetic disorder.
The aim of presenting this case is that couples with a personal family history of a heritable genetic disorders should be offered for genetic counseling and should be provided with a calculated risk of having an affected fetus.
Case report: The case of the present study was a 38 year old pregnant woman, at 38w gestational age, who referred with labor pain to Akbar Abadi hospital, in October 2008. Due to having history of three cesarean sections in the past, emergency surgery was performed. The female newborn had multiple craniofacial anomalies and phocomelia in righ upper limb.
Conclusion: Selective screening for prenatal care should be offered based on maternal age, family history, or the ethnic or racial background of the couple. With prenatal diagnosis, it is the clinicians' decision to alter the severity of congenital diseases by offering expanding number of fetal treatments or surveillance as well as optimal delivery for some or consideration of termination of pregnancy for others.

 
Keyword(s): PHOCOMELIA, CLEFT LIP, CLEFT PALATE, AUTOSSOMAL RECESSIVE
 
 
References: 
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Citations: 
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+ Click to Cite.
APA: Copy

KEYPOUR, F., & NAGHI, I. (2011). ROBERTS-SC PHOCOMELIA (PSEUDOTHALIDOMIDE SYNDROME) (A CASE REPORT). JOURNAL OF RAFSANJAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES, 10(1 (38)), 75-81. https://www.sid.ir/en/journal/ViewPaper.aspx?id=279220



Vancouver: Copy

KEYPOUR F., NAGHI I.. ROBERTS-SC PHOCOMELIA (PSEUDOTHALIDOMIDE SYNDROME) (A CASE REPORT). JOURNAL OF RAFSANJAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES. 2011 [cited 2021October17];10(1 (38)):75-81. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=279220



IEEE: Copy

KEYPOUR, F., NAGHI, I., 2011. ROBERTS-SC PHOCOMELIA (PSEUDOTHALIDOMIDE SYNDROME) (A CASE REPORT). JOURNAL OF RAFSANJAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES, [online] 10(1 (38)), pp.75-81. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=279220.



 
 
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