Coincident myelomeningocele and gastroschisis: report of 2 cases
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Updated: Feb 13, 2026

In Vivo Two-Color 2-Photon Imaging of Genetically-Tagged Reporter Cells in the Skin
Published on: July 11, 2019
Jason S Hauptman1, Robert Bollo2, Rama Damerla3
11Department of Neurosurgery, Seattle Children's Hospital, Seattle, Washington.
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.
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meta-Directing Deactivators: –NO2, –CN, –CHO, –⁠CO2R, –COR, –CO2H