A case of Pfeiffer syndrome

Abstract

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.

Fig. 1

(A) Head photography of 2 week-old girl shows a brachicephalic head as a result of bilateral coronal synostosis, and regressed small mid-face with mild proptosis. (B) Hand photography shows bilateral syndactyly of 2nd, 3rd, and 4th fingers with broad and radially-deviated thumbs. (C) Feet photography reveals bilateral syndactyly of all 5 toes with broad big toes.

Fig. 2

(A) Three-dimensional anterior view reconstruction CT shows the bilaterally fused coronal sutures (arrows). (B) Three-dimensional posterior view reconstruction CT shows bilaterally over-separated sagittal and lambdoid sutures (arrow heads).

Fig. 3

Plain radiographs of her hands and feet show no bony fusion between phalanges.

Fig. 4

Three-dimensional CT image of choanal air airway shows small and narrow airway of choanal space (arrows).