AUTHOR=Huang Yanping , Wang Jin , Zeng Lingkong , Wang Shi , Zhang Xuechen 

TITLE=Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 13 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1532561

DOI=10.3389/fped.2025.1532561

ISSN=2296-2360

ABSTRACT=Adams-Oliver syndrome is a rare congenital disorder with six subtypes that have been identified. Subtypes 1, 3, 5, and 6 have an autosomal dominant inheritance pattern, whereas subtypes 2 and 4 have an autosomal recessive inheritance pattern. The clinical phenotype of Adams–Oliver syndrome is heterogeneous and can be accompanied by abnormalities in other organs, especially the cardiovascular system, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, vascular abnormalities in other organs, and congenital heart defects. Herein, we report a case of Adams–Oliver syndrome caused by a de novo variant in DLL4. The patient was a neonate with clinical manifestations of skin defects who was diagnosed with Adams–Oliver syndrome on the basis of genetic testing.