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Child with Crouzon syndrome showing characteristic facial features. Cranial sutures A defining characteristic of Crouzon syndrome is craniosynostosis , which results in an abnormal head shape. This is present in combinations of: turricephaly , frontal bossing , trigonocephaly fusion of the metopic suture , brachycephaly fusion of the coronal suture , dolichocephaly fusion of the sagittal suture , plagiocephaly unilateral premature closure of lambdoid and coronal sutures , oxycephaly fusion of coronal and lambdoidal sutures , and complex craniosynostosis premature closure of some or all sutures.
Exophthalmos bulging eyes due to shallow eye sockets after early fusion of surrounding bones , hypertelorism greater than normal distance between the eyes , and psittichorhina beak-like nose are also very common features. Other facial characteristics that are present in many cases include external strabismus and hypoplastic maxilla insufficient growth of the midface , which results in relative mandibular prognathism protruding chin and gives the effect of the patient having a concave face.
Sensorineural hearing loss is present in some cases. The abnormalities in the manner in which the eyes fit in the eye sockets can cause vision problems, the most common of which is corneal exposure that can lead to visual impairment. Due to maxillary hypoplasia, people with Crouzon syndrome generally have a considerable permanent underbite. However, the mutation constitutively activates the transmembrane protein via a disulfide bond formed incorrectly due to the loss of cysteine A point mutation causes constitutive activation of tyrosine in the activation loop, located in the cytosolic region of the protein, leading to accelerated differentiation of frontal osteoblasts,  resulting in premature fusion of frontal cranial bones.
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. Without surgery, blindness and intellectual disability are typical outcomes. To move the orbits forward, surgeons expose the skull and orbits and reshape the bone.
To treat the midface deficiency, surgeons can move the lower orbit and midface bones forward. In the later scenario, a helmet is worn for several months following surgery.
Síndrome de Pseudo Crouzon: Presentación de un Caso