Unrecognized Proximal Focal Femoral Deficiency Associated with Ectrodactyly. The Importance of Antenatal Skeletal Screening. A Case Report and Review

Abstract Antenatal care (ANC) aims to promote maternal health, detect fetal anomalies, and prepare families and clinicians for potential complications. Prenatal ultrasonography is important diagnostic tool to identifying skeletal abnormalities, but diagnostic accuracy varies according to operator skills, equipment quality, and organizational differences in screening programs. We report a case of proximal focal femoral deficiency (PFFD) in a newborn whose prenatal scans were reported as normal. Postnatal examination revealed right limb shortening and left-hand ectrodactyly. Imaging confirmed PFFD, and systemic screening was normal. The case highlights the potential for missed diagnoses during ANC and underscores the need for standardized anomaly scans regardless of maternal risk classification. Keywords: Proximal focal femoral deficiency; skeletal dysplasia; prenatal diagnosis; antenatal care; limb length discrepancy.