Brozon Syndrome Research Paper

INTRODUCTION. Idiopathic congenital nystagmus, or idiopathic infantile nystagmus is a disease characterized by the rapid, involuntary eye movement. This movement is typically in the horizontal direction, however, movement in other directions have been observed. One way to get nystagmus is through genetic mutations. Nystagmus caused by genetic mutation is seen at a relatively young age but cannot yet be treated. The disease is not understood well, it is believed that the cause is a developmental defect. The linkage, and inheritance has not been identified, the patterns suggest that multiple genes are involved in the disease and that there are loci on different chromosomes with three of the five loci located on the X chromosome. Mutations have been linked to the FRMD7 gene, a gene that consists of 12 exons, of the FERM family. The function of FRMD7 have yet to be determined however an abundance of the protein in the brain in areas associated with the eye. Mutations within this region consist of missense, deletion, tranversion and nonsense mutations. Over forty-four mutations that lead to ICN have been found in the FRMD7 gene. Learning more about the mutation of FRMD7 in ICN is important because these mutations may prevent elongation of neurite processes during differentiation preventing axons from responding to stimuli (Watkins et al. 2012).

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula are midline. Normal auditory acuity. Normal shoulder shrug.

2. Anesthetic cornea that may result from acoustic neuroma surgery, surgery for trigeminal neuralgia, birth defects such as dysautonomia and Seckle’s syndrome, herpes simplex/zoster of the cornea, or diabetes.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation, and movement. Tongue and uvula were midline. Decreased auditory acuity bilaterally. Normal shoulder shrug.

English Bulldogs will not bark usually like some other varieties of dogs that bark for distraction. Nevertheless, it doesn’t mean that they are necessarily quiet all the time. Instead, they often make snorting or snoring and wheezing sounds frequently, especially while they’re asleep. That is again because of their flat and short face characteristics.

An estimated 4 million dogs in the US are at high risk of suffering from brachycephalic syndrome (Jacot). Dogs with this disease are, at best, noisy breathers, snort when excited, and snore. At worst, their airway noise is significantly more pronounced, they tire easily, and may collapse or faint during and after the simple exercises, like walking around the block. These animals cough, gag, retch, and vomit, which may worsen in hot or humid weather.

Birt-Hogg-Dube syndrome is a rare disorder where you have certain tumors. Most tumors appear on the face, forehead, and neck. BHD is caused by mutations in the FLCN gene. (Genetics Home Reference) BHD is also inherited from parents or the grandparents. The symptoms are, tumors on face, neck, and the forehead. (Genetics Home Reference) BHD increases the risk of getting cancer.

A. Dominant pathogenic mutations display their traits despite another copy remains present. The lethal form of keratitis-ichthyosis-deafness (KID) syndrome is caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele

Cri du chat syndrome is a rare genetic condition that is caused by the deletion (missing piece) of a genetic material on the small arm of chromosome 5. The cause of this disease is unknown. Some of the symptoms of this disease usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size, widely-spaced eyes, low birth weight, weak muscle tone, and webbing.

The world of psychology remains an ever-growing force, affecting humankind constantly with the capability to shape or change a person's overall cognition and behavior.  Frequently, psychological disorders or conditions arise due to the normal anatomy or physiology of the brain being altered, manipulating or even magnifying the average person's state of mind.  Upon delving into the expansive realm of psychological conditions, I had discovered a rather unique condition that evidently leads its victims to believe they are no longer among the living: Cotard's Syndrome (AKA Walking Corpse Syndrome).  In short, it goes without saying that the grotesque delusions of this syndrome are undeniably captivating, which drew me in with

Biochemical and molecular studies have shown that the vast majority (about 90 percent) of osteogenesis imperfecta (types I, II, III, and IV) are caused by a single dominant mutation in either COL1A1 or COL1A2. These genes carry instructions for making proteins that make larger molecules called type 1 collagen (main protein in bone and skin), which is the most abundant form of all collagen in the human body. The other forms of OI are caused by a recessive mutation in the CRTAP, and P3H1 genes, which often are more rare forms of OI. OI Type VII is caused by the CRTAP gene and OI type VIII is caused by P3H1. These genes produce proteins that work together in forming collagen in its mature form. If either gene has a mutation, it causes weakening of connective tissues, bone abnormalities, and bone growth issues. The gene that causes OI types V and VI are unknown; however people with these two forms do not have mutations in the type 1 collagen genes.

According to Johnson et al. (2011), this condition has complete penetrance and variable expressivity of the trait. In more than 75 percent of patients, facial bone hypoplasia, involving the mandible and zygomatic complex, occurs (Johnson et al., 2011). The patient may have limited opening of the mouth, a small lower jaw, malocclusion, steep downward angle of the upper and lower jaws, cleft palate or a high vaulted palate (Renju, Renju, Varma, Kumar, & Kumaran, 2014). The maxilla may also be hypoplastic, according to Johnson et al. (2011), but it may be seen as overprojecting. Cleft palates are also a common feature of this syndrome. In some of the more severe cases, the insufficient formation of the facial bones could potentially obstruct the airway of the patient (Chang & Steinbacher, 2012). Some symptoms that can impact the eyes of the patient include: down-slanted palpebral fissures, lower eyelid coloboma, and spare eyelashes. Vision loss (33%), strabismus (37%), congenital cataracts, and microphthalmia or anophthalmia can occur, as well, according to findings from Chang and Steinbacher (2012). Despite these potential symptoms, vision is typically normal due to the retina developing on a branchial arch not affect by Treacher Collins syndrome and most patients have at least one

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula were midline. Normal auditory acuity. Normal shoulder shrug.

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene [1–4]. Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax [1,3,4]. The majority of the BHD patient population contain germline mutations in FLCN exon 11, a hotspot for disease causing mutations. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function [1,2,5]. Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as:

Crouzon Syndrome is a distinctive form of Craniosynostosis which is a disease causing the premature fusion of the cranial sutures [W. Reardon et al. 1994] associated with complications affecting sensory, respiratory and neurological function. [D Johnson et al. 2011]