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Updated: Jun 10, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Adams-Oliver syndrome: a case with minimal expression]
M Messerer1, S Diabira, H Belliard
1Service de neurochirurgie, hôpital neurologique Pierre-Wertheimer, 59, boulevard Pinel, 69003 Lyon, France. m.messerer@laposte.net
Summary
Adams-Oliver syndrome is a rare congenital disorder featuring skin defects and limb abnormalities. This report details a mild neonatal case, highlighting the syndrome's diverse clinical presentations and potential causes.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Dermatology
Context:
- Adams-Oliver syndrome (AOS) is a rare genetic disorder.
- Characterized by aplasia cutis congenita (ACC) and transverse limb defects.
- Presents a wide spectrum of clinical severity.
Purpose:
- To report a neonatal case of sporadic Adams-Oliver syndrome with minimal clinical expression.
- To illustrate the broad spectrum of AOS clinical manifestations.
- To review existing literature and discuss pathogenetic hypotheses for AOS.
Summary:
- A neonatal case of sporadic Adams-Oliver syndrome with minimal expression is presented.
- This case underscores the variable clinical spectrum of AOS.
- The report includes a literature review and discussion of potential causes.
Impact:
- Enhances understanding of Adams-Oliver syndrome's clinical variability.
- Provides insights into the pathogenesis of AOS.
- Contributes to the clinical recognition and diagnosis of AOS in neonates.
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