Work

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

Year: 2024

Type: article

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.

Source: Case Reports in Clinical Radiology

DOI: 10.25259/crcr_16_2024

Authors: Kanchan Nigam, Jyoti Gupta, Noopur Chawla

Institutions: Vardhman Mahavir Medical College & Safdarjung Hospital, Safdarjang Hospital

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4402014784