Kleeblattschädel in Pfeiffer syndrome type II

Research output: Contribution to journalArticle

Abstract

Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly. Presented here is a case of Pfeiffer syndrome type II demonstrating a cloverleaf skull configuration and multiple facial and skull base abnormalities characteristic of the disorder. The constellation of findings consistent with Pfeiffer syndrome type II described here provides imaging depictions helpful to the radiologist who may be able to suggest genetic testing for this disorder.

Original languageEnglish (US)
Pages (from-to)474-478
Number of pages5
JournalRadiology Case Reports
Volume15
Issue number5
DOIs
StatePublished - May 2020

Keywords

  • Acrocephalosyndactyly
  • Craniosynostosis
  • Pfeiffer syndrome

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Fingerprint Dive into the research topics of 'Kleeblattschädel in Pfeiffer syndrome type II'. Together they form a unique fingerprint.

  • Cite this