Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Abstract

Introduction: Unilateral amelia, a rare congenital anomaly characterized by the absence of one limb, is often accompanied by severe malformations in other systems. Although the survival of affected infants beyond the neonatal period is rare, some cases have been documented with varying outcomes. This case report discusses a newborn with unilateral amelia and multiple congenital anomalies.

Presentation of case: A 41-week gestation stillbirth from Palestine was delivered after a normal pregnancy, except for prenatal ultrasound findings of absent left upper limb, severe lower limb deformities, preaxial polydactyly, syndactyly, dextrocardia, and asymmetric hydrocephalus. Postnatal examination revealed additional craniofacial anomalies, gastrointestinal malformations, and respiratory abnormalities. Despite the severe deformities, the infant survived beyond 2 months.

Discussion: Unilateral amelia is often associated with other congenital malformations, indicating complex embryological disruptions. The combination of limb deficiency with visceral abnormalities complicates management and prognosis. While stillbirths and early neonatal deaths are common, this case's survival beyond 2 months is a notable exception. This report contributes valuable insight into the prognosis of such rare congenital conditions.

Conclusion: This case emphasizes the rarity of unilateral amelia with multiple congenital defects and underscores the importance of comprehensive prenatal evaluation and genetic counseling. The patient's extended survival provides new perspectives on the management and outcomes of infants with such complex anomalies.