دورية أكاديمية

Jarcho Levin Syndrome with open neural tube defect: A case report

التفاصيل البيبلوغرافية
العنوان: Jarcho Levin Syndrome with open neural tube defect: A case report
المؤلفون: Md Mokarram Ali, Yogender Singh Kadian, Saima Ejaz, Arnav Kadian
المصدر: Journal of Neonatal Surgery, Vol 13 (2024)
بيانات النشر: EL-Med-Pub, 2024.
سنة النشر: 2024
المجموعة: LCC:Pediatrics
LCC:Surgery
مصطلحات موضوعية: Genetic disorder, Meningomyelocele, Ribs, Jarcho Levin syndrome, Pediatrics, RJ1-570, Surgery, RD1-811
الوصف: Background: Jarcho Levin syndrome is a rare genetic disorder characterized by spine abnormalities and the absence of ribs. It is associated with various congenital malformations and carries significant morbidity and mortality. The simultaneous presentation of this syndrome with neural tube defects is seldom encountered. Case Presentation: We report a case of a 2-day-old male who presented with a lesion on his back since birth. Clinical and radiological examinations revealed thoracolumbar meningomyelocele with the absence of upper ribs on the right side and a patent foramen ovale. Subsequently, the patient underwent surgery for meningomyelocele, while the rib anomalies were managed conservatively. Conclusion: Jarcho Levin syndrome is a rare disorder, and its association with meningomyelocele is extremely uncommon. It should be considered in the evaluation of a patient with a neural tube defect and respiratory distress.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2226-0439
العلاقة: https://www.jneonatalsurg.com/ojs/index.php/jns/article/view/1282Test; https://doaj.org/toc/2226-0439Test
DOI: 10.47338/jns.v13.1282
الوصول الحر: https://doaj.org/article/1d0b1f1a92ed4e67892bd486445629efTest
رقم الانضمام: edsdoj.1d0b1f1a92ed4e67892bd486445629ef
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22260439
DOI:10.47338/jns.v13.1282