August
12
20:06
Genetic diseases

Crouzon syndrome

Crouzon syndrome

Crouzon syndrome photo Crouzon syndrome - a rare genetic anomaly that has the second name of craniofacial dysostosis and are characterized by different deformation front parts of the skull and brain.These deformations can be either congenital or develop over first year of life.The incidence of this syndrome - 1: 10,000 children.

Crouzon syndrome is characterized by hypertelorism, exophthalmos, hypoplastic midface with little mandibular pragmatism and premature sinostozirovaniem skull.

Crouzon syndrome symptoms

Clinical changes are limited to the face and skull.Due to the vertical mid-face hypoplasia, the nose may have an unusual shape.Often there is protruding tongue, short upper lip, the lower lip is lowered, relative mandibular pragmatism.Constant feature of Crouzon syndrome is a partial interdigitation.

Changes in the bone .The shape of the skull deformation depends on what kind of joints are involved in the pathological process.There may be: trigonocephaly, scaphocephaly, brachycephaly

anomaly Kleeblattschadel (rare).On palpation a very good feeling flattened edge seams.Near the junction strelkovidnogo and coronal sutures of the skull are often observed exostosis.The onset of premature craniosynostosis usually falls on the first year of life, and often ends by the age of three.Sometimes synostosis may not show up to ten years.

Changes in the organs of .Exophthalmos is always secondary.Its development is due to a decrease in the depth of the orbits.Also with Crouzon syndrome is marked nystagmus and exotropia.Hypertelorism is a permanent feature of the disease.The defeat of the optic nerve is seen in 80% of patients with Crouzon syndrome.In some cases, there may be ectopic pupil, coloboma of the iris, lens ectopia, megalocornea, spontaneous dislocation of the eyeball.

Changes in the hearing .In 30% of patients with Crouzon syndrome occurs deafness, usually a conductive type.After the post-mortem or surgical research in the oval window reveals the fixation of the stapes and the deformation of the auditory ossicles.There is a clear distortion of the internal auditory canal, the lack of recovery and reduction of bone conduction.In addition, there is a conductive or mixed hearing loss and external auditory canal atresia.

changes from the vestibular system is not detected.

Diagnostics and laboratory data in Crouzon syndrome

On radiographs often easily seen covered premature sinostozirovaniem lyambdovidny, sagittal and coronal sutures.In addition, there may be radiographic findings such as small paranasal sinuses, the expansion of the pituitary fossa, basilar kyphosis, flattening of the eye sockets, and digital impressions.Tomographic study clearly indicates a deformation of the internal auditory canal.

tomogram of temporal bone external rotation detects department rocky pyramid, secondary to dysplasia of the skull base.As a result, we had a slanting direction of the auditory canals, the direction of the facial nerve was wrong and hyperostosis seen.And changes to the primary should be attributed anomalies of the auditory ossicles, oval window closing.

tomography of the temporal bone reveals the absence of the tympanum, atresia or stenosis of the external auditory canal, narrowing and bending pneumatic spaces of the mastoid and middle ear, the stapes deformation, ankylosis of the hammer on the outside wall of the upper part of the tympanic cavity.In addition, the observed hypoplasia of the periosteal part of the labyrinth.

differential diagnosis is carried out with such diseases as CETP Chottsena syndrome, Pfeiffer syndrome and Apert syndrome.

Crouzon syndrome treatment

As such, treatment of Crouzon syndrome is impossible.Perhaps only for functional and / or cosmetic surgical correction, is the partial removal prematurely sinostozirovannyh joints and prevent dislocation of the eyeball by surgical creation blepharophimosis.French surgeon P. Tessier described in detail the radical surgery that can fix the maximum strain in the face Crouzon syndrome.

forecast Crouzon syndrome is extremely disappointing.With age, the celebrated friendly, and alternating exotropia.Binocular vision is impossible.Often marked atrophy of the optic nerve, leading to an absolute loss of vision.In some cases the complete loss of one / both of the eyeballs, which occurs due to progressive flattening of the eye sockets.In the bregma, the formation of exostosis, as a result of premature sinostozirovaniya seams.With age, with normal development of the lower jaw, it becomes more and more pronounced hypoplasia of the midface.

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