التفاصيل البيبلوغرافية
| العنوان: |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome. Case report ; Síndrome genital, ocular, cardiaco y de agenesia del cuerpo calloso. Reporte de caso |
| المؤلفون: |
Montero-Vázquez, Raúl Alberto, Méndez-Contreras, Claudia Marcela |
| المصدر: |
Case reports; Vol. 10 No. 1 (2024) ; Case reports; Vol. 10 Núm. 1 (2024) ; Case reports; v. 10 n. 1 (2024) ; 2462-8522 |
| بيانات النشر: |
Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina |
| سنة النشر: |
2024 |
| المجموعة: |
Universidad Nacional de Colombia: Portal de Revistas UN |
| مصطلحات موضوعية: |
Malformaciones del Sistema Nervioso, Agenesia del Cuerpo Calloso, Tetralogía de Fallot, Anomalías Craneofaciales, Megalencefalia, Hidrocefalia, Cadherinas, enfermedad Huérfana, Enfermedad congénita, Anomalías congénitas, Nervous System Malformations, Agenesis of Corpus Callosum, Tetralogy of Fallot, Craniofacial Abnormalities, Megalencephaly, Hydrocephalus, Cadherins, Orphan Disease, Congenital anomalies, Congenital disorders |
| جغرافية الموضوع: |
México |
| الوصف: |
Introduction: The etiopathogenic study of major and minor malformations, as well as their identification, is imperative for pediatricians since they are the first contact physicians in the natal and postnatal care of most newborns. The agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a complex disorder with a very low incidence, caused by mutations of the CDH2 gene on chromosome 18q12. The anomalies associated with this condition can be found in several systems: anophthalmia and microphthalmia in the eye, problems in the ventricular septal defect in the heart, and problems in the brain such as ventriculomegaly, agenesis of the corpus callosum, among others. Case presentation: A newborn with a prenatal history of macrocephaly diagnosed by pelvic ultrasound was referred to the pediatrics service of a secondary care institution in the city of Acapulco (Mexico) due to respiratory distress. On admission, macrocephaly, heart murmur, and cryptorchidism were observed, in addition to respiratory distress that was managed with phase 2 ventilation. Transfontanelar ultrasound and axial tomography of the skull were performed, with findings consistent with agenesis of the corpus callosum, hydrocephalus, and cerebellar hypoplasia. In the echocardiogram performed, a tetralogy of Fallot was identified. These results, together with all the anomalies found, were consistent with ACOGS. Conclusion: ACOGS is a heterogeneous and uncommon group of major malformations recently described in the literature, which should be suspected in patients with cardiac, genital, and neural tube defects. ; Resumen Introducción. El estudio etiopatogénico de las malformaciones tanto mayores como menores, así como su identificación, son requisito indispensable para el pediatra ya que es el médico de primer contacto en la atención natal y postnatal de gran parte de los recién nacidos. El síndrome genital, ocular, cardiaco y de agenesia del cuerpo calloso (ACOGS por sus siglas en inglés) es una entidad compleja y de ... |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf; text/html |
| اللغة: |
English |
| العلاقة: |
https://revistas.unal.edu.co/index.php/care/article/view/102660/92404Test; https://revistas.unal.edu.co/index.php/care/article/view/102660/92405Test; https://revistas.unal.edu.co/index.php/care/article/view/102660Test |
| الإتاحة: |
https://revistas.unal.edu.co/index.php/care/article/view/102660Test |
| حقوق: |
Derechos de autor 2024 Case reports ; http://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.2C1465CE |
| قاعدة البيانات: |
BASE |
