Prenatal diagnosis of type 2 Pfeiffer syndrome

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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
StatePublished - Dec 1996

Fingerprint

Medicago
skull
Prenatal Diagnosis
Skull
Acrocephalosyndactylia
Hallux
leaves
congenital anomalies
Parturition
disorders
Hypertelorism
Craniosynostoses
Exophthalmos
pregnancy
Thumb
fetuses
Second Pregnancy Trimester
Nose
Fetus
Cardiocranial syndrome

Keywords

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

ASJC Scopus subject areas

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

Cite this

Bernstein, P. S., Gross, S. J., Cohen, D. J., Tiller, G. R., Shanske, A. L., Bombard, A. T., & Marion, R. W. (1996). Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound in Obstetrics and Gynecology, 8(6), 425-428.

Prenatal diagnosis of type 2 Pfeiffer syndrome. / Bernstein, Peter S.; Gross, S. J.; Cohen, D. J.; Tiller, G. R.; Shanske, A. L.; Bombard, A. T.; Marion, Robert W.

In: Ultrasound in Obstetrics and Gynecology, Vol. 8, No. 6, 12.1996, p. 425-428.

Research output: Contribution to journalArticle

Bernstein, PS, Gross, SJ, Cohen, DJ, Tiller, GR, Shanske, AL, Bombard, AT & Marion, RW 1996, 'Prenatal diagnosis of type 2 Pfeiffer syndrome', Ultrasound in Obstetrics and Gynecology, vol. 8, no. 6, pp. 425-428.
Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanske AL, Bombard AT et al. Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound in Obstetrics and Gynecology. 1996 Dec;8(6):425-428.
Bernstein, Peter S. ; Gross, S. J. ; Cohen, D. J. ; Tiller, G. R. ; Shanske, A. L. ; Bombard, A. T. ; Marion, Robert W. / Prenatal diagnosis of type 2 Pfeiffer syndrome. In: Ultrasound in Obstetrics and Gynecology. 1996 ; Vol. 8, No. 6. pp. 425-428.
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