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Adams-Oliver syndrome revisited
1Department of Pediatrics, University of Minnesota, Minneapolis.
American Journal of Medical Genetics
|September 1, 1991
Summary
Adams-Oliver syndrome involves variable scalp defects and limb malformations, often inherited in an autosomal dominant pattern. This genetic disorder shows a wide range of severity, from mild to lethal.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Adams-Oliver syndrome (AOS) is a rare genetic disorder.
- Previous studies have reported cases, but a comprehensive review was needed.
Observation:
- This study analyzed 81 cases across 32 families.
- The syndrome affects males and females almost equally.
- Vertical transmission suggests autosomal dominant inheritance in at least 8 families.
Findings:
- AOS exhibits variable phenotypes, including scalp and bone defects, and limb malformations.
- Central nervous system and intellectual development appear unaffected despite cranial defects.
- Cutis marmorata and scalp vein abnormalities can occur as isolated findings (forme fruste).
Implications:
- Adams-Oliver syndrome is phenotypically distinct from aplasia cutis congenita and terminal transverse limb defects.
- The findings suggest a potential vascular etiology, possibly due to impaired circulation in developmental