Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature.

Journal Article (Journal Article)

The authors present the first known reported case of hemifacial microsomia associated with a Chiari I malformation and syrinx. A 14-year-old girl presented with progressive torticollis of 3 years' duration and headaches exacerbated by exercise. Computerized tomography scanning and magnetic resonance imaging revealed extensive craniofacial and vertebral abnormalities, including aplasia of the floor of the left middle fossa and posterior fossa cranium, articulation of the left mandibular condyle with the left temporal lobe, and progressive development of a Chiari I malformation with associated syringomyelia. The patient first underwent posterior fossa decompression, duraplasty, and occipitocervical fusion. This procedure was later followed by reconstruction of the floor of the left middle fossa and temporomandibular joint. The patient's outcome was excellent. In this case report the authors review the complex embryological development of craniofacial and craniovertebral structures, and emphasize the use of a staged approach to treat pathophysiological consequences of this congenital anomaly.

Full Text

Duke Authors

Cited Authors

  • Mesiwala, AH; Shaffrey, CI; Gruss, JS; Ellenbogen, RG

Published Date

  • December 2001

Published In

Volume / Issue

  • 95 / 6

Start / End Page

  • 1034 - 1039

PubMed ID

  • 11765819

International Standard Serial Number (ISSN)

  • 0022-3085

Digital Object Identifier (DOI)

  • 10.3171/jns.2001.95.6.1034


  • eng

Conference Location

  • United States