SYNDROMES ASSOCIATED
WITH PREMATURE FUSION OF SUTURES

Syndromes involving synostosis of sutures present a considerably more complex and potentially severe problem than simple sutural synostosis.

They affect facial sutures as well as cranial sutures and consequently cause facial deformity as well, to a lesser or greater degree.

The clinical picture of these syndromes varies greatly, ranging from a mild deformity which may even go unrecognized at birth, to a devastating deformity.

Vital functions may be affected to a variable degree. Vision may be jeopardized by exophthalmos causing difficulty in eyelid closure leaving the cornea unprotected, or by direct involvement of the optic nerve itself. Respiration may be affected by inadequate development of the upper airway structures. Intracranial hypertension is also present much more frequently than in simple sutural synostosis affecting vision, causing headaches and quite possibly affecting mental development. Hydrocephalus may also be present.

The potential for heredity of these syndromes is great. The affected genes are currently being identified.

Crouzon's, Apert's, Pfeiffer's, Saethre - Chotzen's are the most "frequent" syndromes, although numerous others have been identified, depending on the combination of structures affected.

Crouzon's syndrome (from M.O. Crouzon's original publication)

Apert's syndrome

Treatment should be individualized following a complete clinical evaluation. Operations designed to protect vital functions may need to be carried out on an emergent basis, whereas surgical procedures for the correction of deformities may be deferred to a later date, depending on the current trends and principles of Craniofacial Surgery.

Schematic rendering of procedure to advance the forehead and middle third of the face

Generally, decompression of the cranial cavity in order to relieve intracranial hypertension (even though doubt is being cast regarding the effectiveness of such operations) is carried out during infancy. Correction of deformities involving the middle third of the face are carried out later in childhood.

Newer methods such as bone distraction (the slow pulling apart of bone segments), and endoscopic surgery, as well as new materials (such as absorbable plates and screws for fixation of bone that has been moved) are continuously being tested, and without doubt will change the way in which craniofacial anomalies are treated in the years to come.