Volume 10, Issue 1 (4-2011)
JRUMS 2011, 10(1): 75-81 |
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Roberts-SC Phocomelia (Pseudothalidomide syndrome)
(A Case Report). JRUMS 2011; 10 (1) :75-81
URL: http://journal.rums.ac.ir/article-1-5328-en.html
URL: http://journal.rums.ac.ir/article-1-5328-en.html
Abstract: (3333 Views)
Background and Objective: 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, 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.
Key words: Phocomelia, Cleft lip, Cleft palate, Autossomal Recessive
How to cite this article: Keypour F, Naghi I. Roberts-SC Phocomelia (Pseudothalidomide syndrome): A Case Report. J Rafsanjan Univ Med Sci 2011; 10(1): 75-81. [Farsi]
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, 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.
Key words: Phocomelia, Cleft lip, Cleft palate, Autossomal Recessive
How to cite this article: Keypour F, Naghi I. Roberts-SC Phocomelia (Pseudothalidomide syndrome): A Case Report. J Rafsanjan Univ Med Sci 2011; 10(1): 75-81. [Farsi]
Type of Study: Case Report |
Subject:
Gynecology
Received: 2020/05/11 | Accepted: 2020/05/11 | Published: 2020/05/11
Received: 2020/05/11 | Accepted: 2020/05/11 | Published: 2020/05/11
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