Novel presentation of acalvaria with clavicular absence: A case report

Rationale: Acalvaria is an exceptionally rare congenital disorder marked by the absence of flat bones of the cranial vault, dura mater, and associated muscles, while the facial bones and base of the skull remain intact. Typically, the central nervous system is unaffected. Due to their extreme rarity, reported cases in the literature are infrequent. This condition often results in fatalities, as newborns with this anomaly generally have short life expectancies. However, there are a few documented cases of prolonged survival.

Patient concerns: A 1-day-old full-term Palestinian male born to first-cousin parents at 37 + 6 weeks gestational age presented with an excessively soft skull without scalp abnormalities. The mother experienced polyhydramnios during the last 7 weeks of pregnancy.

Diagnoses: Head ultrasound and X-rays confirmed the absence of skull vault bones and clavicles with normal facial bones. A CT scan showed well-formed brain structures and foci of hemorrhage in the left frontal lobe.

Interventions: Supportive care was the primary management approach. The patient received comprehensive care in the neonatal intensive care unit, with a focus on stabilization and monitoring.

Outcome: After 3 weeks in the neonatal intensive care unit, the patient showed normal feeding and function, but the prognosis remained poor. The patient's family was informed about the poor prognosis.

Lessons: This case reveals a unique combination of acalvaria and absent clavicles. Early antenatal diagnosis is essential but was delayed here. More research is needed to understand and improve the diagnosis of these conditions.