Type 3 Pfeiffer syndrome with normal thumbs

We report on a male infant with extremely shallow orbits, spontaneous luxation of the eyes out of the eyelids, hypoplastic midface, broad, medially rotated great toes, and respiratory distress due to severe bilateral posterior choanal stenosis. At 4 days he had open cranial sutures (both by palpation and radiological examination). Subsequent radiologic studies demonstrated: thickening of the skull base, vertebral anomalies, flattening of the olecranon fossae with dislocated radii, and triangular shape of the proximal phalanx of the first toes. Our patient had manifestations of type 3 Pfeiffer syndrome (PS). However, the finding of normal thumbs has not been reported in type 3 PS. Point mutations in fibroblast growth factor receptor-1 (FGFR1) and fibroblast growth factor receptor-2 (FGFR2) have been reported in familial and sporadic cases of PS, but were not found in this patient. Recognizing type 3 PS, despite variability in expression, is important for genetic counseling, prognosis, and decision-making regarding craniofacial surgery.