Multiple Congenital Anomalies in a Preterm Neonate with G6PD Deficiency from Consanguineous Parents

Abstract

Introduction: Congenital anomalies can be defined as structural or functional disorders, including metabolic disorders. The prevalence of congenital anomalies is not high. Case Presentation: We would like to present a 34-week- preterm neonate with glucose-6-phosphate dehydrogenase deficiency who was born with several fetal anomalies from consanguineous parents. Mother had a twin-birth pregnancy which one of twins died because of lung hemorrhage and the second twin was born with multiple anomalies four fingers in both hands, short legs attached to the pelvic bone, and absence of tibia, fibula, and ankle bones. Hemimelia, which was mostly known as the congenital deformity and a type of phocomelia, is extremely rare. To detect most of these types of anomalies, magnetic resonance imaging, radiography, ultrasound, and computed tomography scan can be used. Conclusion: Congenital anomalies are the cause of many infants' deaths. To detect most of these types of anomalies, MRI, radiography, ultrasound, and computed tomography (CT) scan can be used.