According to history findings :
The physical findings show the following:
Histopathologic examination of changes in the skin will often reveal acanthosis nigricans . To confirm the diagnosis, hand, spine and skull radiography is often required. The skull radiography will reveal the following:
On radiography of the spine, lumbarization and the presence of bifid spinous process is seen. Some cases show signs of achondroplasia too. Achondroplasia is also established by looking through a radiographic examination of the metacarpal bones and fingers.
Other tests can also be carried out to further confirm diagnosis. These tests include:
Papillomatosis, acanthosis and hyperkeratosis are all histologic features of acanthosis nigricans. The amount of pigment cells is also increased in the upper dermis of the basal layer. There is no difference between the histologic features of acanthosis nigricans in its symptomatic, benign or malignant forms.
Surgical interventions are aimed to preventing complications and correcting the craniofacial dysmorphy which can be of great benefit.
Individuals with the crouzon syndrome can expect to live a normal life with any life expectancy reductions.
An ophthalmologist is expected to monitor the cornea of the eye to ensure it isn’t allowed to dry out. Any dental problems can be treated successfully .
The Crouzon syndrome is often inherited in an autosomal pattern. Associations with mutations in the genes FGFR2 and FGFR3 have been identified in many cases .
This disorder is of interest to dentists because many of the abnormalities recorded physically are present in the head and mostly the oral cavity. The common features are crowding of teeth, hypodontia (missing some teeth), posterior lateral crossbite and narrow/high-arched palate.
Crouzon patients have permanent underbite and thus they will not be able to chew using their incisors. The permanent underbite is as a result of maxillary hypoplasia. It is for this reason that many Crouzon patients have to eat in a way that can be deemed as unusual. Breaking off pieces of sandwich instead of taking a bite into it and eating fried chicken with a fork are some of these unusual eating habits .
The prevalence of this condition is very low as Crouzon syndrome is very rare across the world. It is currently estimated that it occurs in 1 out of 25,000 individuals in the general population across the world .
There is no difference recorded between races.
Sex does not play any role in the distribution of this condition.
All dysplasias of the skeleton which includes craniofacial dysostosis are caused by the malformations of the ectoderm and mesenchyme. This is also taking into account the unknown teratogenic factors.
Dyspalsias are inherited in an autosomal dominant pattern. The condition is believed to stem from the mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) . However, mutation in the transmembrane region of the FGFR3 has been detected as a possible cause of this syndrome. It has been observed in cases where acanthosis nigricans was exisiting alongside the condition.
There are no guidelines for prevention of Crouzon syndrome.
Also known as branchial arch syndrome, Crouzon syndrome is a genetic disorder which specifically targets the first pharyngeal (branchial) arch . This arch is the precursor of the maxilla and mandible.
Disturbances in the development of the arch often have lasting and widespread effect because the branchial arches are very important developmental features in a growing embryo.
Crouzon syndrome was first discovered in 1912 as one of the types of craniofacial dysotosis. The dysostosis is brought about by premature obliteration and subsequent ossification of two sutures or more. The sutures mostly affected are the sagittal and coronal. The term craniostenosis was introduced by Virchow . The type of craniostenosis is determined by the type of obliterated sutures. The differentiations are, oblique head, wedge skull, scaphocephaly, and oxycephaly. The most common occurences of dysostosis involve Crouzon syndrome with Oxycephaly and Apert Syndrome with oxycephaly.
The syndrome is named after a French physician Octave Crouzon who was the first to describe this disorder. According to him, there affected patients were a mother and daughter and this implied genetic bias. It was first called craniofocal dysostosis and it is a disorder that was characterised by numerous clinical features. The syndrome occurs where there is a mutation in the fibroblast growth factor receptor II which is located on chromosome 10 .
To further break down the name, “dysostosis” refers to malformation of the bone while “craniofocal” refers to the skull and face.
Patients with Crouzon syndrome are expected to have regular appointments with an Ophthalmologist and a neurologist.