Adams-Oliver Syndrome in a Newborn: A Case Report and Comprehensive Literature Review

TL;DR

A newborn with Adams-Oliver Syndrome had scalp and limb defects but no internal issues, emphasizing the importance of early diagnosis and multidisciplinary care.

Contribution

This case report adds to the understanding of AOS's variable presentation and emphasizes the importance of comprehensive evaluation.

Findings

The newborn had scalp aplasia and brachydactyly but no internal organ involvement.

Surgical correction of the scalp lesion was successful without neurological or cardiac abnormalities.

The case highlights the need for early diagnosis and genetic counseling in AOS.

Abstract

Adams-Oliver syndrome (AOS) is a congenital condition marked by aplasia cutis congenita and terminal limb defects, often accompanied by diverse systemic manifestations. We present a case of a newborn female with scalp aplasia cutis and brachydactyly, but no internal organ involvement. Clinical and imaging assessments identified a scalp bone defect without neurological or cardiac abnormalities. Surgical correction of the scalp lesion was successfully performed. This case underscores the variable clinical presentation of AOS and highlights the need for comprehensive evaluation and multidisciplinary care. Early diagnosis and genetic counseling remain crucial for accurate prognosis and informed family planning.

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