Definition
Definition
Crouzon disease is a rare hereditary disease which combines:
- Craniosynostosis (cranial malformation).
- Hypoplasia (decrease in volume) of the face (faciostenosis).
Symptoms
Symptoms
Symptoms of Crouzon's disease mainly include bone malformations:
- Skull malformations characterized mainly by:
- A "clown hat" bump located at the level of the large drinking fountains.
- Ridges on the sides and in the middle of the skull, near the coronal sutures, descending towards the root of the nose.
- The extension of the forehead forward by a hump.
- Facial malformations (face):
- Removal of normal facial features (particularly the eye sockets, which tend to disappear).
- Hypertelorism (widening of the space between the two eyes).
- Flattening of the root of the nose.
- exophthalmos (protrusion of the eyes from the sockets).
- Parrot-beak nose shape (exaggerated convexity).
- Jaw malformations:
- Hypoplasia of the upper jaw (reduction in the volume of the upper jaw).
- The mandible (lower jaw) appears as prognathous (projected before).
- Extra teeth.
- Other malformations:
- Anosmia (partial or total loss of smell).
- Deafness problems (sometimes).
- Mental retardation sometimes, but less frequent than in theacrocephalosyndactyly.
- Sometimes elbow malformations.
- Breathing difficulties.
Pathophysiology
Crouzon's disease is a genetic disease dominant transmission (it is enough for one of the parents to carry the genetic anomaly for the child to have the disease).
Le chromosome carrying the genetic anomaly is number 10. The disease manifests itself variably within the same family.
Medical exam
Additional examination
La radiography confirms the diagnosis, and shows the different bone anomalies (non-exhaustive list):
- Uneven thickness of the skull vault.
- Change of location of the sella turcica (cavity containing the pituitary gland) which is pushed down and forward.
The IRM shows certain malformations of the nervous tissue (Arnold-Chiari, syringomyelia).
Treatment
Treatment
Treatment of Crouzon's disease is the uuse of the bone distraction, which is a technique used in surgery (notably maxillofacial) and which allows, after the insertion of a specific instrument, to produce additional bone tissue. This is intended to create an enlargement of the skull.