Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients

Am J Med Genet. 1996 Jan 2;61(1):59-62. doi: 10.1002/(SICI)1096-8628(19960102)61:1<59::AID-AJMG11>3.0.CO;2-V.

Abstract

The combination of MURCS association (Müllerian duct and renal agenesis, upper limb and rib anomalies) and occipital encephalocele occurred in a stillborn girl of 41 weeks gestation. The malformations are compatible with a defect in the organization of the paraxial mesoderm that gives rise to occipital, cervical, and thoracic somites and adjoining intermediate mesoderm. These structures contribute to the occipital bone, cervical spine, upper limbs, and urogenital system. Brain imaging may be useful in assessing MURCS patients, if cranial malformations prove to be clinically important in these individuals.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Adult
  • Central Nervous System / abnormalities*
  • Encephalocele / complications*
  • Encephalocele / diagnostic imaging
  • Female
  • Fetal Death
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Pregnancy
  • Radiography