Multimodality approach in tetraphocomelia – An uncommonly seen red flag in anomaly scan

Robert’s syndrome is an autosomal recessive genetic disorder characterized by fetal growth restriction along with a myriad of limb and craniofacial abnormalities such as tetraphocomelia, oligodactyly, clinodactyly, midline facial clefts, midfacial masses, hypertelorism, and ear malformations. Spinal anomalies have rarely been reported in previous literature. Herein, we report one such rare proven case of Robert’s syndrome, diagnosed antenatally and managed by medical termination of pregnancy.

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Publication Details

Journal
Case Reports in Clinical Radiology
Published
2024-08-29
DOI
https://doi.org/10.25259/crcr_16_2024
Primary Topic
Congenital limb and hand anomalies
Type
article
Field-Weighted Citation Impact
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article

Multimodality approach in tetraphocomelia – An uncommonly seen red flag in anomaly scan

Noopur Chawla, Jyoti Gupta, Kanchan Nigam
1 links
Case Reports in Clinical Radiology
Congenital limb and hand anomalies
article

Multimodality approach in tetraphocomelia – An uncommonly seen red flag in anomaly scan

Noopur Chawla, Jyoti Gupta, Kanchan Nigam
article en

Abstract

Robert’s syndrome is an autosomal recessive genetic disorder characterized by fetal growth restriction along with a myriad of limb and craniofacial abnormalities such as tetraphocomelia, oligodactyly, clinodactyly, midline facial clefts, midfacial masses, hypertelorism, and ear malformations. Spinal anomalies have rarely been reported in previous literature. Herein, we report one such rare proven case of Robert’s syndrome, diagnosed antenatally and managed by medical termination of pregnancy.

Case Reports in Clinical RadiologyVol. 0
Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
Good health and well-being
Openalex Percentile: Top 88%
Congenital limb and hand anomalies
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