Crouzon's Syndrome

Description of Crouzon's Syndrome

Crouzon's syndrome, or craniofacial dystosis, is a rare deformity that is closely related to Apert's syndrome. Although many of the physical deficiencies associated with Apert's are not present in the Crouzon's Syndrome patient, both are thought to have similar genetic origins. Of the 10,000 infants born each day in the United States, it is estimated that one of these infants will have Crouzon's syndrome.

Characteristics of Crouzon's Syndrome

Crouzon's Syndrome patients have three distinct features:

Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures
Underdeveloped midface with receded cheekbones or exophthalmos (bulging eyes)&
Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.

Some other features commonly seen in these Crouzon's Syndrome patients are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. The mental capacity of Crouzon's Syndrome patients is usually in the normal range, however some mental delay has been reported.

Causes of Crouzon's Syndrome

The cause of Crouzon's Syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration. Their occurrence is sporadic and extremely rare. Usually, the parents are not affected and the risk for future children of that couple is minimal. The offspring of an Crouzon's Syndrome patient have a 50-60% chance of inheriting Crouzon's Syndrome due to the dominant characteristics of this gene.

Expectations and Treatment of Crouzon's Syndrome

Children with Crouzon's Syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen. Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon. Unusual resonance and speech patterns can develop from the small nose, the high arched palate, or the malocclusion. A cleft palate can be associated with Crouzon's Syndrome and is repaired as it is with any other cleft patient. As with other cleft patients, there can be hearing problems due to recurrent ear infections. With proper treatment, these Crouzon's Syndrome patients can be productive and active members of mainstream society.

Multiple staged surgery is the general treatment plan for patients with Crouzon's Syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. Skull reshaping may need to be repeated as the child grows to give the best possible results. In addition, depending on the severity of the skull deformity, this procedure may be done in one stage or two stages. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmus to correct the occlusion to an appropriate functional position and to provide for a more normal appearance of the Crouzon's Syndrome patient.

Case Studies

Crouzons Syndrome with Lefort III Osteotomy
Preoperative frontal view of 5-year-old patient with Crouzons Syndrome with exorbitism and midface deficiency. Postoperative frontal view 3 years after Lefort III osteotomy. Pre and postoperative lateral views.

Crouzon Syndrome

Crouzons Syndrome
Preoperative frontal view of 3-year-old patient with Crounzon's Syndrome with decreased vision resulting from increased intracranial pressure. Postoperative frontal view after cranial vault expansion and Lefort III advancement. Pre and postoperative lateral views.

Crouzon Syndrome