Pfeiffer Syndrome
General: Congenital craniosynostotic syndrome with a high rate of mortality shortly after birth.
Ocular: Severe proptosis (also described as extreme exophthalmic midface hyperplasia).
Clinical: Cloverleaf skull, elbow ankylosis, broad thumbs, and/or broad halluces; variable additional abnormalities including pulmonary problems, brain abnormalities, and prematurity that frequently lead to early death.
Barone CM, et al. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet 1993; 45:745-750.
Muller D, Steinberger D, Kunze S. Molecular genetics of craniosynostotic syndromes. Graefes Arch Clin Exp Ophthalmol 1997; 235:545-550.
Plomp AS, et al. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998; 75:245-251.
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