Raine syndrome

Kim Michael, Danielle M. Nelson, Anna Ortmeier

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Raine syndrome is a lethal, osteosclerotic bone dysplasia. There is a generalized increase in bone density, but the increased ossification in the skull results in a unique "fish-like" appearance to the face. Specific characteristics include a prominent forehead, exophthalmos, midfacial hypoplasia with hypoplastic nose, triangular-shaped mouth, and gum hyperplasia. Fewer than 20 cases have been reported in the literature with survival times varying from minutes to weeks. A retrospective review of the sonographic findings in the presented case documents the unique facial phenotype associated with this rare syndrome.

Original languageEnglish (US)
Pages (from-to)167-170
Number of pages4
JournalJournal of Diagnostic Medical Sonography
Volume27
Issue number4
DOIs
StatePublished - Jul 2011

Keywords

  • Craniofacial dysplasia
  • Osteosclerosis
  • Raine syndrome
  • Sonography

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

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