Oxf Med Case Reports. 2025 Sep 28;2025(9):omaf176. doi: 10.1093/omcr/omaf176. eCollection 2025 Sep.
ABSTRACT
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by scalp and limb malformations, including scalp aplasia and digital anomalies such as brachydactyly or oligodactyly. While typically inherited through either autosomal dominant or recessive patterns, sporadic cases have also been documented.
CASE PRESENTATION: A male neonate, born to consanguineous parents, presented with classic features of AOS including aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). The mother reported antidepressant use during the first trimester. Prenatal ultrasound findings were suggestive of AOS, which was confirmed postnatally by a large vertex scalp defect with absent skin and bone along with bilateral brachysyndactyly. All biochemical tests were normal, with no evidence of cardiovascular or neurological abnormalities.
CONCLUSIONS: This case highlights the critical importance of early prenatal diagnosis for severe AOS through meticulous sagittal plane ultrasonography to detect vertex bone ossification defects. Given the poor postnatal prognosis, early recognition is essential to improve outcomes through timely intervention.
PMID:41025031 | PMC:PMC12476548 | DOI:10.1093/omcr/omaf176
