Sprengel Deformity
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Sprengel Deformity
Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. Majority of the cases are sporadic with very few having autosomal dominant inheritance. The deformity is associated with the following conditions:- * Klippel–Feil syndrome (most common) * congenital scoliosis, * hemivertebrae, * cervical ribs, ⁣ * fused ribs, * omovertebral connections which are fibrous, cartilaginous or bony connection between the superomedial angle of scapula with the spinous process, lamina or transverse process of cervical spine * spina bifida, * cleft palate. The left shoulder is more commonly affected, but it can occur bilaterally as well. About 75% of all observed cases are girls. Treatment includes su ...
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Shoulder Blade
The scapula (plural scapulae or scapulas), also known as the shoulder blade, is the bone that connects the humerus (upper arm bone) with the clavicle (collar bone). Like their connected bones, the scapulae are paired, with each scapula on either side of the body being roughly a mirror image of the other. The name derives from the Classical Latin word for trowel or small shovel, which it was thought to resemble. In compound terms, the prefix omo- is used for the shoulder blade in medical terminology. This prefix is derived from ὦμος (ōmos), the Ancient Greek word for shoulder, and is cognate with the Latin , which in Latin signifies either the shoulder or the upper arm bone. The scapula forms the back of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. Structure The scapula is a thick, flat bone lying on the thoracic wall that provides an attachment for three groups of muscles: intrins ...
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Sporadic Disease
In epidemiology, sporadic is a term used to refer to a disease which occurs only infrequently, haphazardly, irregularly or occasionally from time to time in a few isolated places with no discernible temporal or spatial pattern, as opposed to a recognizable epidemic or endemic pattern. The cases are so few (single or in a cluster) and separated so widely in time and place that there exists little or no connection within them. They also do not show a recognizable common source of infection.According to : "...sporadic cases do not necessarily share a single specific common contaminated source..." In the United States, tetanus, rabies, and plague are considered examples of sporadic diseases. Although the tetanus-causing bacteria ''Clostridium tetani'' is present in the soil everywhere in the United States, tetanus infections are very rare and occur in scattered locations because most individuals have either received vaccinations or clean wounds appropriately. Similarly the country record ...
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Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Klippel–Feil Syndrome
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 (cervical vertebrae). It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. KFS is not always genetic and not always known about on the date of birth. The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. In 1919, in his Doctor of Philosophy thesis, André Feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine. Signs and symptoms KFS is associated with many other abnormalities o ...
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Scoliosis
Scoliosis is a 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. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Treatme ...
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Congenital Vertebral Anomaly
Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae. Lumbarization and sacralization ''Lumbarization'' is an anomaly in the spine. It is defined by the nonfusion of the first and second segments of the sacrum. The lumbar spine subsequently appears to have six vertebrae or segments, not five. This sixth lumbar vertebra is known as a transitional vertebra. Conversely the sacrum appears to have only four segments instead of its designated five segments. Lumbosacral transitional vertebrae consist of the process of the last lumbar vertebra fusing with the first sacral segment. While only around 10 percent of adults have a spinal abnormality due to genetics, a sixth lumbar vertebra ...
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Cervical Rib
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% (1 in 200 to 500) of the population. People may have a cervical rib on the right, left or both sides. Most cases of cervical ribs are not clinically relevant and do not have symptoms; cervical ribs are generally discovered incidentally, most often during x-rays and CT scans. However, they vary widely in size and shape, and in rare cases, they may cause problems such as contributing to thoracic outlet syndrome, because of pressure on the nerves that may be caused by the presence of the rib. A cervical rib represents a persistent ossification of the C7 lateral costal element. During early development, this ossified costal element typically becomes re-absorbed. Failure of this process results in a variably elongated transverse process or complete rib that can be ...
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Scapula
The scapula (plural scapulae or scapulas), also known as the shoulder blade, is the bone that connects the humerus (upper arm bone) with the clavicle (collar bone). Like their connected bones, the scapulae are paired, with each scapula on either side of the body being roughly a mirror image of the other. The name derives from the Classical Latin word for trowel or small shovel, which it was thought to resemble. In compound terms, the prefix omo- is used for the shoulder blade in medical terminology. This prefix is derived from ὦμος (ōmos), the Ancient Greek word for shoulder, and is cognate with the Latin , which in Latin signifies either the shoulder or the upper arm bone. The scapula forms the back of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. Structure The scapula is a thick, flat bone lying on the thoracic wall that provides an attachment for three groups of muscles: intrin ...
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Spina Bifida
Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. Learning problems are rela ...
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Surgery
Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pathological condition such as a disease or injury, to help improve bodily function, appearance, or to repair unwanted ruptured areas. The act of performing surgery may be called a surgical procedure, operation, or simply "surgery". In this context, the verb "operate" means to perform surgery. The adjective surgical means pertaining to surgery; e.g. surgical instruments or surgical nurse. The person or subject on which the surgery is performed can be a person or an animal. A surgeon is a person who practices surgery and a surgeon's assistant is a person who practices surgical assistance. A surgical team is made up of the surgeon, the surgeon's assistant, an anaesthetist, a circulating nurse and a surgical technologist. Surgery usually spa ...
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Physical Therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and physic ...
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