What are the signs and symptoms of Crouzon syndrome?

  It is also known as craniofacial osteogenesis imperfecta syndrome, first reported by French neurologist crouzon in 1912. It is characterized by premature closure of the cranial sutures and a frog-shaped face, which is characterized by a protruding eye sign and midface recession. The syndrome is familial and is inherited as an autosomal dominant disorder with an ectopic rate of nearly 100%.  Clinical manifestations: Patients with Crouzon syndrome have different characteristics of cranial deformities. Due to the different sites of premature closure of cranial sutures, navicular, triangular or acromegalic head deformities can occur. The maxilla is poorly developed in all directions of the three-dimensional space, the recession of the mid-facial skeleton, the shortening of the anterior-posterior diameter of the low orbit, and the insufficient volume size of the orbit to accommodate the orbital contents lead to proptosis.  The basic signs are cranial deformity and facial skeletal dysplasia. The head is pointed, triangular or navicular, flattened in front and back, sunken nasal bridge, protruding lower jaw, and high hard palate. The skull cap is thin, the cerebral gyrus is increased, the skull base is short and deep, the butterfly saddle is vertical, and the orbit is obviously small.  Surgery: The timing of surgery can be divided into early treatment (within one year) and late treatment (after one year). In recent years, early surgery is advocated because it can minimize the psychological and social trauma of the child.       The purpose of early surgery is twofold: (i) to reduce intracranial pressure, thus preventing the onset of visual impairment and allowing normal brain development; and (ii) to restore the brain shape to normal. Late surgery refers to surgery performed after the child’s first birthday.  Le Fort type III osteotomy with anterior displacement (Tessier method) can be used for mild deformities. For moderate and severe deformities, a combined intracranial and extracranial approach with split craniofacial bone advancement and Le Fort III osteotomy (Enbloc procedure) and a whole craniofacial bone advancement and Le Fort III osteotomy (Monobloc procedure) can be used.