International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Since Year 2012 | Open Access | Double Blind Reviewed

ISSN: 2319-7064




Downloads: 98 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Case Studies | Radiology and Medical Imaging Sciences | India | Volume 9 Issue 7, July 2020


Prenatal Diagnosis of Roberts-SC Phacomelia Syndrome: A Rare Case Report

Dr. Shabbir Ahmed | Dr. Girija M. K | Dr. Saiteja Namala [2] | Dr. Rajan B [3]


Abstract: Roberts syndrome/Roberts-sc Phacomelia syndrome is a rare disease, with multiple limb and skeletal abnormalities (called pseudothalidomide disease). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in the prenatal routine anomaly scan, when a 24 years patient came for routine antenatal checkup without prior follow-up. The pregnancy was not followed due to socioeconomic and family situation and no prior ultrasound was performed. The ultrasound evaluation showed: hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, abnormal and lower implanted ears, oligodactyly of right hand, upper limbs phocomelia (severe on the right side), asymmetrical femur growth and intrauterine growth restriction. Roberts syndrome is a rare genetic disease with autosomal recessive transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined anomaly scan at 24weeks. We believe this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission. The baby was terminated later on as soon as the suspicion of Roberts-SC syndrome was made. The overall radiological features were suggestive of Roberts syndrome.


Keywords: autosomal recessive, Roberts SC phocomelia syndrome


Edition: Volume 9 Issue 7, July 2020,


Pages: 1037 - 1040


How to Cite this Article?

Dr. Shabbir Ahmed, Dr. Girija M. K, Dr. Saiteja Namala, Dr. Rajan B, "Prenatal Diagnosis of Roberts-SC Phacomelia Syndrome: A Rare Case Report", International Journal of Science and Research (IJSR), Volume 9 Issue 7, July 2020, pp. 1037-1040, https://www.ijsr.net/get_abstract.php?paper_id=SR20709152249

How to Share this Article?






Similar Articles with Keyword 'autosomal'

Downloads: 0

Informative Article, Radiology and Medical Imaging Sciences, India, Volume 11 Issue 8, August 2022

Pages: 961 - 964

Kartagener's Syndrome: A Rare Case Report

Dr. Manohar Kachare | Dr. Akshay Satai | Dr. Avinash Ade | Dr. Shivani Dabhade

Share this Article

Downloads: 1 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Case Studies, Radiology and Medical Imaging Sciences, India, Volume 11 Issue 6, June 2022

Pages: 1250 - 1252

Case Report of Tuberous Sclerosis

Ishan Sharma | Malvika Shitak | Shruti Thakur

Share this Article


Top