Brachycephaly refers to craniosynostosis in which the premature closure of both coronal sutures entails reduced calvarial growth in the anterior-posterior plane and possibly enhanced biparietal growth.
Common phenotypic features of brachycephalic patients are an abnormally high ratio of maximal biparietal to fronto-occipital distance, prominent forehead, and flattened occiput. Severe brachycephaly is generally diagnosed at birth, but milder forms of the disease may not manifest until childhood. Although a more harmonious restriction of calvarial growth may not attract attention during infancy, the reduction of a patient's intracranial volume may interfere with development and cognitive function . Thus, mental retardation, visual and hearing impairment as well as other neurological deficits may become apparent during childhood. The causes of cognitive disorders are manifold; vision loss, for instance, has been related to corneal exposure, optic neuropathy, and amblyopia .
Of note, additional symptoms are likely to be observed in patients suffering from syndromic brachycephaly. It is beyond the scope of this article to describe the clinical presentation of these entities, and the interested reader is referred to available reviews . The absence of anomalies of hands and feet, in turn, is highly indicative of non-syndromic brachycephaly.
A three-dimensional reconstruction of the patient's skull may be achieved by means of computed tomography or magnetic resonance imaging. Typical results comprise limited growth of the anterior fossa, prominent elliptical orbits commonly referred to as harlequin eyes, and an increased interorbital distance . Bulging of temporal fossae, upper and midface hypoplasia, as well as exorbitism, are common, particularly in patients suffering from syndromic brachycephaly.
Similarly, diagnostic imaging is indicated to identify concomitant pathologies such as the premature closure of additional sutures, and complications of brachycephaly like hydrocephalus. Patients should be subjected to a thorough ophthalmological examination to assess whether they are suffering from increased intracranial pressure and to evaluate vision. An evaluation of the patient's hearing ability may set the grounds for corresponding therapeutic measures. Both conductive hearing loss and sensorineural hearing loss may be present . The patient's stage of mental development should also be determined.
Brachycephaly refers to skull deformities characterized by an increased ratio of the skull's biparietal to fronto-occipital diameter. This parameter may be designated as the cranial proportional index, and brachycephaly is diagnosed in individuals whose cranial proportional index is above the 95th percentile . Brachycephaly is a type of craniosynostosis . In affected individuals, the premature closure of both coronal sutures impedes the skull to achieve full development in the anterior-posterior plane, while biparietal growth is unaltered or enhanced. However, biparietal growth doesn't usually compensate for brachycephaly and the intracranial volume of an affected individual remains diminished. This may lead to increased intracranial pressure, brain function impairment, developmental delays, and neurological deficits. Early surgery is required to avoid irreversible lesions. Frontoorbital advancement is the technique of choice to perform a frontal reconstruction in brachycephalic individuals .
Brachycephaly may be diagnosed in patients suffering from syndromes such as Apert syndrome, Carpenter syndrome, craniofrontonasal syndrome , Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, and Smith-Magenis Syndrome  , or may constitute a disease without any associated syndromes .