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Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms of MFS is variable.
Scoliosis is a medical condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age.
Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of severe chest or back pain, often described as "tearing" in character. Also, vomiting, sweating, and lightheadedness may occur. Other symptoms may result from decreased blood supply to other organs, such as stroke or mesenteric ischemia. Aortic dissection can quickly lead to death from not enough blood flow to the heart or complete rupture of the aorta.
The long thoracic nerve supplies the serratus anterior muscle. This nerve characteristically arises from the anterior rami of three spinal nerve roots: the fifth, sixth, and seventh cervical nerves (C5-C7), although the root from C7 may be absent. The roots from C5 and C6 pierce through the scalenus medius, while the C7 root passes in front of the muscle.
Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis. It can result from degenerative disc disease; developmental abnormalities, most commonly Scheuermann's disease; osteoporosis with compression fractures of the vertebra; multiple myeloma; or trauma. A normal thoracic spine extends from the 1st thoracic to the 12th thoracic vertebra and should have a slight kyphotic angle, ranging from 20° to 45°. When the "roundness" of the upper spine increases past 45° it is called kyphosis or "hyperkyphosis". Scheuermann's kyphosis is the most classic form of hyperkyphosis and is the result of wedged vertebrae that develop during adolescence. The cause is not currently known and the condition appears to be multifactorial and is seen more frequently in males than females.
Thoracic outlet syndrome (TOS) is a condition in which there is compression of the nerves, arteries, or veins in the passageway from the lower neck to the armpit. There are three main types: neurogenic, venous, and arterial. The neurogenic type is the most common and presents with pain, weakness, and occasionally loss of muscle at the base of the thumb. The venous type results in swelling, pain, and possibly a bluish coloration of the arm. The arterial type results in pain, coldness, and paleness of the arm.
An aortic aneurysm is an enlargement (dilatation) of the aorta to greater than 1.5 times normal size. They usually cause no symptoms except when ruptured. Occasionally, there may be abdominal, back, or leg pain.
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a physical burden, hyperhidrosis can deteriorate quality of life from a psychological, emotional, and social perspective. Common places to sweat can include underarms, face, neck, back, and groin. It has been called by some 'the silent handicap'.
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck. It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline.
The scalene muscles are a group of three pairs of muscles in the lateral neck, namely the anterior scalene, middle scalene, and posterior scalene. They are innervated by the fourth, fifth, and sixth cervical spinal nerves (C4-C6).
A rib fracture is a break in a rib bone. This typically results in chest pain that is worse with breathing in. Bruising may occur at the site of the break. When several ribs are broken in several places a flail chest results. Potential complications include a pneumothorax, pulmonary contusion, and pneumonia.
Middle back pain, also known as thoracic back pain, is back pain that is felt in the region of the thoracic vertebrae, which are between the bottom of the neck and top of the lumbar spine. It has a number of potential causes, ranging from muscle strain to collapse of a vertebra or rare serious diseases. The upper spine is very strong and stable to support the weight of the upper body, as well as to anchor the rib cage which provides a cavity to allow the heart and lungs to function and protect them.
A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% to 0.5% of the population. People may have a cervical rib on the right, left or both sides.
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
A winged scapula is a skeletal medical condition in which the shoulder blade protrudes from a person's back in an abnormal position.
Anterior spinal artery syndrome is syndrome caused by ischemia of the anterior spinal artery, resulting in loss of function of the anterior two-thirds of the spinal cord. The region affected includes the descending corticospinal tract, ascending spinothalamic tract, and autonomic fibers. It is characterized by a corresponding loss of motor function, loss of pain and temperature sensation, and hypotension.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties.
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with bending forwards. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate in which the notochord found in all chordates has been replaced by a segmented series of bone: vertebrae separated by intervertebral discs. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
Open aortic surgery (OAS), also known as open aortic repair (OAR), describes a technique whereby an abdominal or retroperitoneal surgical incision is used to visualize and control the aorta for purposes of treatment. OAS is used to treat aneurysms of the abdominal and thoracic aorta, aortic dissection, acute aortic syndrome, and aortic ruptures. Aortobifemoral bypass is also used to treat atherosclerotic disease of the abdominal aorta below the level of the renal arteries. In 2003, OAS was surpassed by endovascular aneurysm repair (EVAR) as the most common technique for repairing abdominal aortic aneurysms in the United States. In OAS for abdominal aortic aneurysm, the aneurysmal portion of the aorta is replaced with a graft, usually made of dacron or PTFE.
References
- ↑ The Characteristics of Thoracic Insufficiency Syndrome Associated with Fused Ribs and Congenital Scoliosis; Campbell, R. M. et al.; The Journal of Bone and Joint Surgery, Inc., 2003
- ↑ Kocher, Mininder; Millis, Michael B. (2011). Operative Techniques: Pediatric Orthopaedic Surgery E-BOOK: E-BOOK. Elsevier Health Sciences. p. 668. ISBN 978-1455711352.
- ↑ Akbarnia, Behrooz A.; Yazici, Muharrem; Thompson, George H. (2015). The Growing Spine: Management of Spinal Disorders in Young Children. Springer. p. 669. ISBN 9783662482841.
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