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Prenatal diagnosis of type 2 Pfeiffer syndrome
Author(s) -
Bernstein P. S.,
Gross S. J.,
Cohen D. J.,
Tiller G. R.,
Shanske A. L.,
Bombard A. T.,
Marion R. W.
Publication year - 1996
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1997.08060425.x
Subject(s) - medicine , hypertelorism , craniosynostosis , skull , deformity , prenatal diagnosis , fetus , brachycephaly , pregnancy , anatomy , surgery , biology , genetics
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. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology