Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia
The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malfor...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-05-01
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| Series: | Journal of Allergy and Clinical Immunology: Global |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772829325000177 |
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| author | Rica Patil, DO Jacquelyn Hunter, MD Alan Knutsen, MD Stephen R. Braddock, MD |
| author_facet | Rica Patil, DO Jacquelyn Hunter, MD Alan Knutsen, MD Stephen R. Braddock, MD |
| author_sort | Rica Patil, DO |
| collection | DOAJ |
| description | The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations. |
| format | Article |
| id | doaj-art-0ee9ef3054bc4b6b806fea702f27a8c8 |
| institution | OA Journals |
| issn | 2772-8293 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Allergy and Clinical Immunology: Global |
| spelling | doaj-art-0ee9ef3054bc4b6b806fea702f27a8c82025-08-20T01:49:05ZengElsevierJournal of Allergy and Clinical Immunology: Global2772-82932025-05-014210041610.1016/j.jacig.2025.100416Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymiaRica Patil, DO0Jacquelyn Hunter, MD1Alan Knutsen, MD2Stephen R. Braddock, MD3SSM Health - Saint Louis University Hospital, St Louis, Mo; Corresponding author: Rica Patil, DO, 1201 S Grand Blvd, St Louis, MO 63104.SSM Health - Saint Louis University Hospital, St Louis, MoSaint Louis University Hospital, St Louis, MoSSM Health - Cardinal Glennon Children's Hospital, St Louis, MoThe case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.http://www.sciencedirect.com/science/article/pii/S2772829325000177CHARGEcoexistence of colobomaheart defectsatresia choanaegrowth retardationgenital abnormalities |
| spellingShingle | Rica Patil, DO Jacquelyn Hunter, MD Alan Knutsen, MD Stephen R. Braddock, MD Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia Journal of Allergy and Clinical Immunology: Global CHARGE coexistence of coloboma heart defects atresia choanae growth retardation genital abnormalities |
| title | Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia |
| title_full | Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia |
| title_fullStr | Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia |
| title_full_unstemmed | Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia |
| title_short | Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia |
| title_sort | coexistence of coloboma heart defects atresia choanae growth retardation genital abnormalities and ear anomalies charge syndrome and heterotaxy in a newborn with athymia |
| topic | CHARGE coexistence of coloboma heart defects atresia choanae growth retardation genital abnormalities |
| url | http://www.sciencedirect.com/science/article/pii/S2772829325000177 |
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