Cruson Syndrome is a rare genetic disease.
general characteristics
The disease is characterized by deformities of the face thatoccur during the period of intrauterine development. Gill arches in a human embryo are transitional formations, from which important organs, including jaws, are subsequently formed. Disturbance of the development of the gill arches leads to a disease that got its name after the name of the French doctor, who first described it, Octave Cruson. It was he who first noted that the disease is of a genetic nature: his patients were a mother and daughter. This is a maxillofacial disorder characterized by a number of symptoms. It's natural that the problem lies in the bones of the skull: for some reason the child may not be forming correctly. For example, Cruson's syndrome may manifest itself in the fusion of a metopic, coronal or sagittal suture, a premature contraction of the coronal suture or all of the sutures.
Symptomatology
Cruson syndrome is marked by pronouncedsymptoms. Small patients are distinguished, above all, by too low set ears. As a rule, this is what determines all the hearing problems that arise in the future. In especially severe cases, the disease is transformed into Meniere's disease. Among the characteristic signs should also be called brachycephaly, that is, a short and wide neck, exophthalmos, that is, bulging eyes (this is explained by too small eye sockets), hypertelorism, that is too large a distance between the eyes, a small nose resembling a beak. Frequent, but not mandatory, symptoms are strabismus and underdeveloped jaws. Insufficient development of jaws leads to the fact that the chin sharply protrudes forward. All these features characterize the Cruson syndrome (photos of patients you see in the article). For so far, unspecified reasons, most patients have disproportionately narrow hips and shoulders.
Diagnostics
As a rule, immediately after the appearance of the baby onlight can be diagnosed with Cruson Syndrome. The causes of the disease are not known. In order to confirm the presence of the disease, several examinations will be required: X-rays, magnetic resonance imaging, examination of the fundus, genetic testing and scanning of the cerebral cortex.
Frequency
It should be noted that this disease occursvery rarely: according to statistical studies, 25,000 healthy people have one patient, and with a high degree of probability, he already had people in the family who suffer from this disease.
Treatment
In general, the forecast depends on how muchdeformation of the skull affected the state of the brain tissue. In the first year of life, a reconstructive operation can be performed on the skull of the child. As the baby grows, new operations may be needed: on the bones, jaws, soft tissues of the face. In some cases, after surgery, the patient must wear a specially manufactured helmet. The main problem is that the disease is often accompanied by a delay in psychomotor development and convulsive attacks.
