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Adams Oliver syndrome: a family with extreme variability in clinical expression
J S Bamforth1, P Kaurah, J Byrne
1Department of Pediatrics, University of Alberta, Edmonton, Canada.
Insights
Adams Oliver syndrome presents with scalp and limb defects. This family showed significant variation in symptoms, including heart defects, microcephaly, and epilepsy, highlighting the syndrome
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Adams Oliver syndrome (AOS) is a rare genetic disorder characterized by congenital scalp defects and limb anomalies.
- Previous reports suggest variable expressivity, but significant intrafamilial variability has not been extensively documented.
Observation:
- A family with a mother and three children diagnosed with Adams Oliver syndrome is presented.
- The affected individuals exhibit a range of clinical manifestations, including scalp and limb defects.
Findings:
- The family displays pronounced clinical variability, exceeding that seen in previously reported cases.
- Additional anomalies observed include congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, bronchial anomalies, and renal anomalies.
Implications:
- This case underscores the broad spectrum of Adams Oliver syndrome and the potential for extreme intrafamilial variability.
- Further research into the genetic and molecular underpinnings of AOS is warranted to understand the observed phenotypic diversity.
- Enhanced genetic counseling and clinical monitoring are crucial for families affected by Adams Oliver syndrome.
Abstract:
We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families.