OSA Pathogenesis

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

As stated before FAS is the leading cause of mental retardation. There may be mild to severe growth retardation including decreased birthweight and head circumference in addition to continued growth retardation for height, weight and head circumference. Children with FAS fail to ever catch up in growth during the preschool years and have a tendency to remain thin even though there is adequate nutrition. These children often have anomalies and deformed facial features such as short palpebral fissures, flat midface, thin upper lip, indistinct philtrum, epicanthal folds, low nasal bridge, minor ear anomalies, micrognathia, strabismus, ptosis of the upper eyelid, narrow receding forehead, and a short upturned nose (Hess and Kenner 2). In broader terms the face of a FAS child includes a small head; a small maxilla which is the upper jaw; short, upturned nose; smooth philtrum which is a groove in the upper lip; smooth and thin upper lip; and small slightly narrow eyes with noticeable epicanthal folds (http://www.adam.com/ency/article/0009111.sym.htm). In the American Journal of Public Health and article called Tobacco and alcohol use during pregnancy and risk of oral clefts, described a study conducted to examine the relationship between alcohol consumption during the first trimester of pregnancy and oral clefts (Lorente, Cordier, Goujard and Ayme 1). First of all during the 6th through

The six-month postoperative, patients again underwent PSG, Epworth sleepiness scale recording, CAM of upper airway, and bio-data analysis. A total of eight videoendoscopic images were taken of all 19 subjects. Patients were analyzed during quiet respiration and Mueller’s maneuver in both supine and erect positions at the retropalatal and retrolingual levels. The Mueller’s maneuver is a non-invasive procedure using fiber optic endoscopic evaluation that measures both size, shape, and collapsibility of the upper airway (Friedman, 2009). Images were captured using a videocapture card, which was installed into the computer

We do not know for certain about when OI started. Perhaps when sin entered the world but we do know that it has been around for a long time as you can see in these pictures.

It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or

Crainosynostosis is a syndrome in which an infant skull fuses together prematurely. In doing so, the normal development of the head is prevented which leads to deformation in the facial bones. Numerous of the Crainosynostosis syndrome cases can be recognized at birth, but in some individuals it may take as long a year to even be determined. In order to keep up with the expansion of the head, the skull continues to grow until the brain is fully developed. The brain grows at a very rapid pace and normally reaches it potential adult size within the first year. The bones in the head are pushed apart as the brain grows. When the skull is already premature fused together, it can lead to distortion. Research that has been conducted indicates that

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.

Living with Osteogenesis Imperfecta can have multiple effects on people. There are 8 known types of OI. The severity of OI is determined by what type the person has. People with Osteogenesis Imperfecta type 2 have it the worst due to it being the most severe type.

First studies looked for abnormalities within craniofacial structures using techniques and processing common in medical imaging such as cephalometry or computed tomography (CT). In [6] authors applied sophisticated volumetric analysis on magnetic resonance imaging (MRI) of the

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

Enlarged hands and feet are common feature with acromegaly. People with this disorder often notice that they can no longer put on rings that used to fit and that their shoe size has progressively increased. Gradual changes in the shape of their face, such as a protruding lower jaw and brow, an enlarged nose, thickened lips, and wider spacing between the teeth can also be noted (Z. Killinger, J. Payer, I. Lazúrová et al 2010). Because it tends to progress slowly, early signs may not be readily apparent for several years. Sometimes, people notice the condition only by comparing old photographs. Some of the key signature features of this disorder are deepened husky voice as a result of enlarged vocal cords and sinuses,

Osteogenesis Imperfecta, also known as brittle bones disease, is a disease that was found in ancient Egypt. A mummified infant’s skeleton is now housed in the British Museum in London (Bhandari 2008). Many symptoms occur when a person has the disease which varies from mild to severe depending on the person. Symptoms include malformed bones, a short small body, weakness in muscles, curved spine, hearing loss, and a triangular face. Also, the sclera, or the whites of the eyes look gray or purple. To diagnose Osteogenesis Imperfecta or OI for short, doctors look at medical history, family history, x rays, as well as doing a physical exam. OI has no cure, but the symptoms of the disease can be managed. Some treatments for OI may be pain medication,

CT of the sinus dated 11/17/2016 showed mucosal thickening of the inferior turbinates and mild left septal deviation resulting in a mild narrowing of the nasal airways.

The use of bisphosphonates in children with osteoporosis is now well established and it has generally been well tolerated in pediatric patients. This article summarizes a 13-year experience of using ZA therapy in pediatric population with osteoporosis at KAUH (in Jeddah, Saudi Arabia). Considering the relatively wide study group, this study is regarded as the first of its kind amongst middle-east population. With osteoporosis, management and prognosis of the child’s condition are affected by the underlying etiology. According to the present retrospective study, Osteogenesis imperfecta was the most prevalent primary etiology presented to our pediatric endocrine clinic. On the other hand,several forms of secondary osteoporosis were prevalent as well in this population (table2).As the main goals of pharmacological therapy in osteoporosis including; decrease fracture rate, bone pain, increase mobility, independency, and decrement in bone turnover markers, have been achieved, the results of this study prove that cyclic intravenous ZA is an efficient treatment for children and adolescent with osteoporosis. In

When you say the word craniofacial, instantly what comes to your mind is the head or face. Yes, this is true. Craniofacial relates to the parts of your skull and face. When there is any abnormal growth and development in your face or head, it is then called craniofacial syndrome.