Terms:

1) Hypoplastic Incomplete or underdevelopment of a tissue or organ. 2) Exophthalmos Bulging eyes 3) Crouzon syndrome Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Features Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.

Causes Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Diagosis Diagnosis of Crouzon syndrome usually can occur at birth by assessing the signs and symptoms of the baby. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing, X-rays and CT scans can be used to confirm the diagnosis of Crouzon syndrome.

Treatment A child with Crouzon syndrome wearing a corrective cranial band. Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of plastic surgery. To move the orbits forward, craniofacial surgeons expose the skull and orbits and reshape the bone. To treat the midface deficiency, craniofacial surgeons can move the lower orbit and midface bones forward. For jaw surgery, either plastic surgeons or oral and maxillofacial (OMFS) surgeons can perform these operations. Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, and either open vault surgery or strip craniectomy (if child is under 6 months) can be performed. In the later scenario, a helmet is worn for several months following surgery.

Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan. There is no cure yet for Crouzon syndrome.

use of corrective headbands

post cranial vault surgery

Orthodontic Treatment Braces and other orthodontic treatments are usually necessary to help correct misalignment of teeth.

Eye and Ear Treatment An ophthalmologist (eye specialist) and otolaryngologist (ear, nose, and throat specialist) should monitor infants and children with Crouzon syndrome. These specialists can check for problems and provide corrective treatment as necessary.

Supportive Treatment This includes special education for children with a mental deficiency or mental retardation.

Dental significance For dentists, this disorder is important to understand since many of the physical abnormalities are present in the head, and particularly the oral cavity. Common features are a narrow/higharched palate, posterior bilateral crossbite, hypodontia (missing some teeth), and crowding of teeth. Due to maxillary hypoplasia, Crouzon patients generally have a considerable permanent underbite and subsequently cannot chew using their incisors. For this reason, Crouzon patients sometimes eat in an unusual wayeating fried chicken with a fork, for example, or breaking off pieces of a sandwich rather than taking a bite into it.