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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.
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S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
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P S Bernstein, and
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D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
October 2021,
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P S Bernstein, and
S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
October 2014,
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P S Bernstein, and
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D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
January 1997,
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P S Bernstein, and
S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
July 2003,
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P S Bernstein, and
S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
April 2018,
Prenatal diagnosis,
P S Bernstein, and
S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
April 2013,
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology,
P S Bernstein, and
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G R Tiller, and
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A T Bombard, and
R W Marion
September 2017,
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P S Bernstein, and
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G R Tiller, and
A L Shanske, and
A T Bombard, and
R W Marion
December 2001,
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P S Bernstein, and
S J Gross, and
D J Cohen, and
G R Tiller, and
A L Shanske, and
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R W Marion
July 1998,
Nederlands tijdschrift voor tandheelkunde,
