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Case of the week 122  ( June 2013 )

Crouzon Syndrome

 



The father of this 4 years old child complains of out deviation of the eyes of his son which is noticed shortly after birth.
The child is mentally OK without significant findings on examining the fundus and on refracting him.


 See video of this patient
 

 

 The Crouzon’s Syndrome is the most frequent of the craniofacial diseases and is characterized for being a rare genetic disorder that can be diagnosed upon the birth or during the childhood. Although it is uncommon, it has a transmission risk of 50% when one of the parents is a carrier.  The Disease of Crouzon may be distinguished from other craniostenosis syndromes for its association with facial malformations.  The abnormalities found change too much from case to case including variations between members affected of the same family. The suture fusion order and range determine the degree of deformity and inability.

 

The syndrome is characterized by cranium deformities, facial anomalies and exophthalmos, as described by Crouzon.

In the affected individuals there are almost always a high and large forehead, with convexity in the region of the anterior fontanelle, The nose shows an aduncous aspect, due to the strong maxillary hypoplasia, recalling a “parrot beak” due to the frontal shortening of the dorsum of nose. There are several ocular abnormalities and the most common are: shallow orbits, bilateral ocular proptosis, hypertelorism, divergent strabismus, antimongoloid fissure with marked IO overaction, optic atrophy and exposure keratoconjunctivitis. There rarely may occur nystagmus, coloboma of the iris, anisocoria, microcornea or megalocornea, cataract, blue sclerae and glaucoma. 

This child with mild crouzon's syndrome, has an antimongoloid fissure, XT, sever IOOA. He could be managed as any patient with this disalignment. For me, I recommend bilateral IO myomectomies.

 



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