Sinus pericranii in achondroplasia: A case report and review of the literature

Abbey A. Scott, Katelyn D. Hodge, Wilfredo Torres-Martinez, Stephen R. Dlouhy, Jodi L. Smith, David D. Weaver

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis. The latter two defects required surgical correction. SP is an underappreciated malformation that we propose may be induced by increased intracranial pressure. This case appears to be the first report of this condition in achondroplasia.

Original languageEnglish (US)
Pages (from-to)252-255
Number of pages4
JournalClinical Dysmorphology
Volume26
Issue number4
DOIs
StatePublished - Jan 1 2017

    Fingerprint

Keywords

  • achondroplasia
  • dysmorphology
  • sinus pericranii
  • vascular malformation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

Cite this