Prenatal diagnosis of type 2 Pfeiffer syndrome

P. S. Bernstein, S. J. Gross, D. J. Cohen, G. R. Tiller, A. L. Shanske, A. T. Bombard, R. W. Marion

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings, the disorder has been divided into three subtypes: type 1, characterized by mild expression; type 2, in which clover leaf skull deformity and multiple congenital anomalies are present at birth; and type 3, which is similar to type 2, but lacks the presence of the clover leaf skull at birth. We describe a fetus in whom sonographic findings of clover leaf skull deformity, ocular hypertelorism, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy.

Original languageEnglish (US)
Pages (from-to)425-428
Number of pages4
JournalUltrasound in Obstetrics and Gynecology
Volume8
Issue number6
DOIs
StatePublished - Dec 1996

Keywords

  • Clover leaf skull deformity
  • Craniosynostosis
  • Pfeiffer syndrome
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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