TY - JOUR
T1 - Coincident myelomeningocele and gastroschisis
T2 - Report of 2 cases
AU - Hauptman, Jason S.
AU - Bollo, Robert
AU - Damerla, Rama
AU - Gibbs, Brian
AU - Lo, Cecilia
AU - Katz, Aviva
AU - Greene, Stephanie
N1 - Publisher Copyright:
© AANS 2018.
PY - 2018/6
Y1 - 2018/6
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85048234735
UR - https://www.scopus.com/pages/publications/85048234735#tab=citedBy
U2 - 10.3171/201711.PEDS17540
DO - 10.3171/201711.PEDS17540
M3 - Article
C2 - 29521606
AN - SCOPUS:85048234735
SN - 1933-0707
VL - 21
SP - 574
EP - 577
JO - Journal of Neurosurgery: Pediatrics
JF - Journal of Neurosurgery: Pediatrics
IS - 6
ER -