Acalvaria, rare congenital malformation in palestine: case report and literature review

Abstract

Introduction and Importance: Acalvaria is a rare congenital anomaly characterized by absent cranial vault bones, often misdiagnosed as anencephaly or encephalocele. Case Presentation: We present a case of a 10-day-old male neonate with Acalvaria, delivered normally at 37+5 weeks, with a birth weight of 2.7 kg and dysmorphic features including low-set ears and a sandal gap. Skull X-ray revealed absent parietal, temporal, and frontal bones. Initially admitted for potential sepsis, he has since shown normal development at three months, with ongoing conservative management. Clinical Discussion: Acalvaria is a rare congenital malformation marked by the absence of cranial vault bones, dura mater, and scalp muscles. Our case presents partial calvaria absence with normal skull base, classified as primary acalvaria. Associated anomalies necessitate thorough evaluation for prognosis. Diagnosis can occur as early as 12 weeks gestation via ultrasound, but management remains conservative, focusing on supportive care and monitoring for potential surgical interventions later. Conclusion: Acalvaria is a rare, fatal anomaly requiring conservative management; antenatal care and psychological preparation are essential for affected families.