Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome
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 hetero...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1532561/full |
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| author | Yanping Huang Jin Wang Lingkong Zeng Shi Wang Xuechen Zhang |
| author_facet | Yanping Huang Jin Wang Lingkong Zeng Shi Wang Xuechen Zhang |
| author_sort | Yanping Huang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-321df8d1eefe4fffa1e4c1f0d89972d5 |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-321df8d1eefe4fffa1e4c1f0d89972d52025-08-20T02:00:47ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-03-011310.3389/fped.2025.15325611532561Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndromeYanping HuangJin WangLingkong ZengShi WangXuechen ZhangAdams-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.https://www.frontiersin.org/articles/10.3389/fped.2025.1532561/fullAdams-Oliver syndromeDLL4case reportnew borngenetic disease |
| spellingShingle | Yanping Huang Jin Wang Lingkong Zeng Shi Wang Xuechen Zhang Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome Frontiers in Pediatrics Adams-Oliver syndrome DLL4 case report new born genetic disease |
| title | Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome |
| title_full | Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome |
| title_fullStr | Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome |
| title_full_unstemmed | Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome |
| title_short | Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome |
| title_sort | case report a novel dll4 variant in a neonate with adams oliver syndrome |
| topic | Adams-Oliver syndrome DLL4 case report new born genetic disease |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1532561/full |
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