Newborn with Extensive Bart Syndrome
Bart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_107_24 |
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| _version_ | 1841550058992959488 |
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| author | Mariam AlAfeefi Meera Aladawi |
| author_facet | Mariam AlAfeefi Meera Aladawi |
| author_sort | Mariam AlAfeefi |
| collection | DOAJ |
| description | Bart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The patient also exhibited other congenital defects, including a fused external auditory meatus, corneal cloudiness, an asymmetrical mandible, and bilateral undescended testes. |
| format | Article |
| id | doaj-art-6be2aef5b58e4104a852a1d4386bde7a |
| institution | Kabale University |
| issn | 2319-7250 2319-7269 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj-art-6be2aef5b58e4104a852a1d4386bde7a2025-01-10T10:01:20ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502319-72692024-12-0125432232410.4103/ijpd.ijpd_107_24Newborn with Extensive Bart SyndromeMariam AlAfeefiMeera AladawiBart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The patient also exhibited other congenital defects, including a fused external auditory meatus, corneal cloudiness, an asymmetrical mandible, and bilateral undescended testes.https://journals.lww.com/10.4103/ijpd.ijpd_107_24aplasia cutis congenitabart syndromecase reportepidermolysis bullosapyloric atresia |
| spellingShingle | Mariam AlAfeefi Meera Aladawi Newborn with Extensive Bart Syndrome Indian Journal of Paediatric Dermatology aplasia cutis congenita bart syndrome case report epidermolysis bullosa pyloric atresia |
| title | Newborn with Extensive Bart Syndrome |
| title_full | Newborn with Extensive Bart Syndrome |
| title_fullStr | Newborn with Extensive Bart Syndrome |
| title_full_unstemmed | Newborn with Extensive Bart Syndrome |
| title_short | Newborn with Extensive Bart Syndrome |
| title_sort | newborn with extensive bart syndrome |
| topic | aplasia cutis congenita bart syndrome case report epidermolysis bullosa pyloric atresia |
| url | https://journals.lww.com/10.4103/ijpd.ijpd_107_24 |
| work_keys_str_mv | AT mariamalafeefi newbornwithextensivebartsyndrome AT meeraaladawi newbornwithextensivebartsyndrome |