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

✍ Scribed by Lin, Henry J.; Cornford, Marcia E.; Hu, Bing; Rutgers, Joanne K. L.; Beall, Marie H.; Lachman, Ralph S.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 26 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<59::aid-ajmg11>3.0.co;2-v

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✦ Synopsis

The combination of MURCS association (Mullerian 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.

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