Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

BACKGROUND Aplasia cutis congenita (ACC) is a rare congenital defect involving localized absence of skin, occasionally associated with deeper tissue anomalies and congenital malformations. CASE REPORT We report the case of a full-term newborn presenting with extensive ACC involving 40% of the scalp, alongside multiple congenital heart defects, ultimately consistent with tetralogy of Fallot (ToF). Initial management included conservative wound care, cardiologic and neurologic evaluations, and genetic testing. Despite clinical stability at discharge, the infant was readmitted 3 weeks later with hemorrhagic shock secondary to sagittal sinus bleeding, requiring surgical intervention and intensive care. Subsequent follow-up revealed tonic seizures and radiological findings suggestive of prior mild hypoxic injury. While the Rapid Aneuploidy Detection test confirmed a normal female karyotype (46,XX), whole-exome sequencing was pending; however, Adams-Oliver syndrome was strongly suspected. This case illustrates the diagnostic and management challenges posed by extensive ACC with syndromic associations. It also highlights the limitations of antenatal screening, as no abnormalities were detected during pregnancy despite fetal growth restriction. CONCLUSIONS The case underscores the need for a multidisciplinary approach, parental education, and long-term follow-up. Early recognition and coordinated care are essential for managing potential complications and guiding prognosis in complex cases of ACC with associated congenital anomalies.