Two patients with Adams-Oliver syndrome and congenital cardiac malformations are described. A literature review revealed at 13.4% occurrence of congenital cardiac malformations in individuals with Adams-Oliver syndrome, suggesting that cardiac anomalies are a frequent manifestation of this syndrome. All patients with Adams-Oliver syndrome (aplasia cutis congenita and terminal digital anomalies) should be evaluated for cardiac anomalies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1995.tb03928.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome.
Kaohsiung J Med Sci
January 2025
Department of Dermatology, Kaoshiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan.
Human Genetics of Ventricular Septal Defect.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
- The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
- Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
Adams-Oliver syndrome associated with refractory glaucoma.
J AAPOS
August 2024
Department of Glaucoma services, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract.
View Article and Find Full Text PDFCharacterization of a New Variant in Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
Genes (Basel)
April 2024
Laboratory of Medical Genetics, Centro Diagnostico Italiano, 20147 Milan, Italy.
Article Synopsis
- Adams-Oliver syndrome is a rare genetic condition marked by scalp defects and limb abnormalities, linked to mutations in specific genes.
- A recent study identified a new genetic variant that likely causes limb anomalies, predicting that it leads to a dysfunctional protein due to a significant change in its structure.
- The research highlights the importance of interdisciplinary approaches combining experimental and bioinformatics analyses to deepen the understanding of genetic disorders like Adams-Oliver syndrome and their varying impacts on patients.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Eur J Hum Genet
July 2024
Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!