Coincident myelomeningocele and gastroschisis: report of 2 cases.

Coincident myelomeningocele and gastroschisis: report of 2 cases.

J Neurosurg Pediatr. 2018 Mar 09;:1-4

Authors: Hauptman JS, Bollo R, Damerla R, Gibbs B, Lo C, Katz A, Greene S

Abstract
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.

PMID: 29521606 [PubMed - as supplied by publisher]

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