Year: 2025
Type: article
Study design: Case Report
Abstract: Background: Amelia, the complete absence of a limb, is a rare congenital anomaly with a complex and multifactorial etiology, including genetic, vascular, and environmental factors. Early diagnosis is crucial for optimal management and parental counseling. Case: This is a 27-year-old primigravida whose fetus was diagnosed antenatally with isolated right lower limb amelia at 29 + 5 weeks of gestation via ultrasound. The pregnancy was uneventful, with no identifiable teratogenic exposures or family history of congenital anomalies. The baby was delivered vaginally at term and postnatal examination confirmed complete absence of right lower limb along with a rudimentary thumb on the same side and bilateral undescended testes. Genetic testing was normal. Conclusion: This case highlights the importance of fetal anomaly scans in identifying rare congenital limb defects. Multidisciplinary care and early counseling play a key role in optimizing outcomes for both the infant and family.
Authors: Maryam Alsalem, Aysha Shujaie, Hosni Malas
Institution: King Hamad University Hospital
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4412729845