Rashmi Singh

Prenatal Diagnosis of Thanatophoric Dysplasia Type I Based on Classical Ultrasound Findings During Anomaly Scan: A Case Report

Abstract Thanatophoric dysplasia (TD), the most common lethal skeletal dysplasia, results from FGFR3 mutations causing impaired endochondral ossification. Where molecular testing is unavailable, ultrasound evaluation is the diagnostic cornerstone. We report a 24-year-old primigra...