Synchronous complex Chiari malformation and cleft palate-a case-based review

Childs Nerv Syst. 2018 Dec;34(12):2353-2359. doi: 10.1007/s00381-018-3950-3. Epub 2018 Aug 21.


Background: The association between mid-facial clefts and Chiari malformation in the medical literature has been restricted to patients with syndromic craniofacial abnormalities. A common shared developmental pathway including causative factors for facial clefts and "complex" Chiari malformations, both midline skull base pathologies, seems logical but has not been reported. The coincident presentation of these findings in a single patient, and our subsequent discovery of other patients harboring these mutual findings prompted further investigation.

Case illustration: We describe the case of a patient born with a cleft palate which was repaired during his first year of life, subsequently presenting as a teenager to our hospital with a severe and symptomatic complex Chiari malformation. We discuss his treatment strategy, suboccipital decompression with occipitocervical fusion and endoscopic anterior decompression surgeries, as well as his favorable radiological and clinical outcome, demonstrated at long-interval follow-up. Furthermore, we review his two pathologies, cleft palate and Chiari malformation, and posit a common embryological linkage.

Conclusions: The embryologic interaction between the paraxial mesoderm and ectoderm may explain the co-occurrence of cleft palate and complex Chiari malformation in a single patient. Complete radiological, clinical, and genetic evaluation and counseling is advised in this situation and raises the question of whether the presence of a cleft palate independently increases the risk for other skull base developmental abnormalities.

Keywords: Ectoderm; Neural crest; Paraxial mesoderm; Retroflexed odontoid.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Arnold-Chiari Malformation / complications*
  • Cleft Palate / complications*
  • Humans
  • Infant
  • Male