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, m edially rotated great toes, and respiratory distress due to severe bil ateral posterior choanal stenosis. At 4 days he had open cranial sutur es (both by palpation and radiological examination). Subsequent radiol ogic studies demonstrated: thickening of the skull base, vertebral ano malies, flattening of the olecranon fossae with dislocated radii, and triangular shape of the proximal phalanx of the first toes. Our patien t had manifestations of type 3 Pfeiffer syndrome (PS). However, the fi nding of normal thumbs has not been reported in type 3 PS. Point mutat ions in fibroblast growth factor receptor-1 (FGFR1) and fibroblast gro wth factor receptor-a (FGFR2) have been reported in familial and spora dic cases of PS, but were not found in this patient. Recognizing type 3 PS, despite variability in expression, is important for genetic coun seling, prognosis, and decision-making regarding craniofacial surgery (C) 1996 Wiley-Liss, Inc.