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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.

A 34-year-old gravida 2 para 1 (1001) mother was on prophylactic anticoagulation therapy because of pulmonary emboli postabdominal surgery. The pregnancy was terminated at 25 weeks' gestation after ultrasound examination showed a mild hydrocephalus and a cardiac structural defect. Congenital abnormalities of the delivered fetus included nasal hypoplasia, earfold atresia, bilobled lungs, coarctation of the aorta, ventricular septal defect, gastrochisis, and radiographic skeletal stippling. The radiological and physical findings were consistent with warfarin embryopathy.

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