Coincident myelomeningocele and gastroschisis: report of 2 cases
| Autor: | Robert J. Bollo, Cecilia W. Lo, Brian C. Gibbs, Rama Rao Damerla, Stephanie Greene, Jason S. Hauptman, Aviva Katz |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Gastroschisis Male Pediatrics medicine.medical_specialty Meningomyelocele Adolescent business.industry Surgical care Infant Newborn General Medicine 030105 genetics & heredity medicine.disease Magnetic Resonance Imaging 03 medical and health sciences 030104 developmental biology Underlying disease Mutation (genetic algorithm) Medicine Humans Female business |
| Zdroj: | Journal of neurosurgery. Pediatrics. 21(6) |
| ISSN: | 1933-0715 |
| Popis: | Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report on 2 patients who presented with myelomeningocele and gastroschisis at birth. They obtained blood for whole-exome analysis for one of the patients and identified 3 mutations that could be related to the underlying anomalies: homozygous mutations in FAM171B and ABCA1 and a hemizygous (X-linked) mutation in COL4A5. Of these, FAM171B and ABCA1 both have function that may be related to the underlying disease. |
| Databáze: | OpenAIRE |
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