Fetal acalvaria with lateral cleft lip and palate: A rare presentation

• Published in: Radiology case reports 2024, Vol.19 (1), p.374-377
• Main Authors: Mohd Jamil, Amilia Afzan, Chua, Wang Ching, Valayudham, Vairavan Ramesh, Hassan, Hasyma Abu, Jalal, Hamidah Abdul
• Format: Report
• Language: English
• ISSN: 1930-0433; 1930-0433
• DOI: 10.1016/j.radcr.2023.10.036

We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of the cranial vault, dura mater, and its associated muscles with an intact central nervous system. A 41-year-old gravida 5, para 2 + 2A, presented to us at 26 weeks gestation age (GA) with ultrasound findings of a fragile and hypomineralized skull in the fetus. The patient was not keen on whole-axon sequencing. Fetus magnetic resonance imaging (MRI) revealed large cutaneous/skull nonvisualization of the fetus skull, possibly acrania without anencephaly. She delivered via cesarean section at 37 weeks because of two previous cesarean sections. A female infant weighing 2650 g was born with an intact sac to minimize excessive external pressure to the brain tissue. A diagnosis of acalvaria with bilateral lateral cleft lip and palate was made postdelivery. The infant was managed conservatively per multidisciplinary discussion and expired 3 weeks later.