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Thanatophoric Dwarfism
Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. Symptoms and signs Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes. Type I is characterized by extreme rhizomelia, bowed long bones, narrow thorax, a relatively large head, normal trunk length and absent cloverleaf skull. The spine shows platyspondyly, the cranium has a short base, and, frequently, the foramen magnum is decreased in size. The forehead is prominent, and hypertelorism and a saddle nose may be present. Hands and feet are normal, but fingers are short. Type II is characterized by short, straight long bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeleton
A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside the body, and the hydroskeleton, a flexible internal skeleton supported by fluid pressure. Vertebrates are animals with a vertebral column, and their skeletons are typically composed of bone and cartilage. Invertebrates are animals that lack a vertebral column. The skeletons of invertebrates vary, including hard exoskeleton shells, plated endoskeletons, or Sponge spicule, spicules. Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invertebrates. Etymology The term ''skeleton'' comes . ''Sceleton'' is an archaic form of the word. Classification Skeletons can be defined by several attributes. Solid skeletons consist of hard substances, such as bone, cartilage, or cuticle. These can be further ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Saddle Nose
Saddle nose is a condition associated with nasal trauma, congenital syphilis, relapsing polychondritis, granulomatosis with polyangiitis, cocaine abuse, and leprosy, among other conditions. The most common cause is nasal trauma. It is characterized by a loss of height of the nose, because of the collapse of the bridge. The depressed nasal dorsum may involve bony, cartilaginous, or both bony and cartilaginous components of the nasal dorsum. It can usually be corrected with augmentation rhinoplasty by filling the dorsum of the nose with cartilage, bone or synthetic implant. If the depression is only cartilaginous, cartilage is taken from the nasal septum or auricle and laid in single or multiple layers. If deformity involves both cartilage and bone, cancellous bone from iliac crest is the best replacement. Autografts are preferred over allografts. Saddle deformity can also be corrected by synthetic implants of teflon or silicon, but they are likely to be extruded. See also * S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Surface Receptor Deficiencies
Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery with only a few monks or nuns * Prison cell, a room used to hold people in prisons Groups of people * Cell, a group of people in a cell group, a form of Christian church organization * Cell, a unit of a clandestine cell system, a penetration-resistant form of a secret or outlawed organization * Cellular organizational structure, such as in business management Science, mathematics, and technology Computing and telecommunications * Cell (EDA), a term used in an electronic circuit design schematics * Cell (microprocessor), a microprocessor architecture developed by Sony, Toshiba, and IBM * Memory cell (computing), the basic unit of (volatile or non-volatile) computer memory * Cell, a unit in a database table or spreadsheet, formed by the in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Stenosis
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 leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction. Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia. It can be classified by the part of the spine affected into cervical, thoracic, and lumbar stenosis. Lumbar stenosis is the most common, followed by cervical stenosis. Diagnosis is generally based on symptoms and medical imaging. Treatment may involve medications, bracing, or surgery. Medications may include NSAIDs, acetaminophen, or steroid injections. Stretching and strengthening exercises may also be useful. Limiting ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tracheostomy
Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trachea (windpipe). The resulting Stoma (medicine), stoma (hole) can serve independently as an airway or as a site for a tracheal tube or tracheostomy tube to be inserted; this tube allows a person to breathe without the use of the nose or mouth. Etymology and terminology The etymology of the word ''tracheotomy'' comes from two Greek language, Greek words: the root (linguistics), root ''tom-'' (from Ancient Greek, Greek τομή ''tomḗ'') meaning "to cut", and the word ''trachea'' (from Greek τραχεία ''tracheía''). The word ''tracheostomy'', including the root ''stom-'' (from Greek στόμα ''stóma'') meaning "mouth," refers to the making of a semi-permanent or permanent opening, and to the opening itself. Some sources offer differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Canula
A cannula (; Latin meaning 'little reed'; plural or ) is a tube that can be inserted into the body, often for the delivery or removal of fluid or for the gathering of samples. In simple terms, a cannula can surround the inner or outer surfaces of a trocar needle thus extending the effective needle length by at least half the length of the original needle. Its size mainly ranges from 14 to 24 gauge. Different-sized cannula have different colours as coded. Decannulation is the permanent removal of a cannula (extubation), especially of a tracheostomy cannula, once a physician determines it is no longer needed for breathing. Medicine Cannulas normally come with a trocar inside. The trocar is a needle, which punctures the body in order to get into the intended space. Many types of cannulas exist: Intravenous cannulas are the most common in hospital use. A variety of cannulas are used to establish cardiopulmonary bypass in cardiac surgery. A nasal cannula is a piece of plastic tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Greek Language
Greek ( el, label=Modern Greek, Ελληνικά, Elliniká, ; grc, Ἑλληνική, Hellēnikḗ) is an independent branch of the Indo-European family of languages, native to Greece, Cyprus, southern Italy (Calabria and Salento), southern Albania, and other regions of the Balkans, the Black Sea coast, Asia Minor, and the Eastern Mediterranean. It has the longest documented history of any Indo-European language, spanning at least 3,400 years of written records. Its writing system is the Greek alphabet, which has been used for approximately 2,800 years; previously, Greek was recorded in writing systems such as Linear B and the Cypriot syllabary. The alphabet arose from the Phoenician script and was in turn the basis of the Latin, Cyrillic, Armenian, Coptic, Gothic, and many other writing systems. The Greek language holds a very important place in the history of the Western world. Beginning with the epics of Homer, ancient Greek literature includes many works of lasting impo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kleeblattschädel
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ. Craniosynostosis occurs in one in 2000 births. Craniosynostosis is part of a syndrome in 15% to 40% of affected patients, but it usually occurs as an isol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteogenisis Imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination. The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen. In more than 90% of cases, OI occurs due to mutations in the ''COL1A1'' or ''COL1A2'' genes. These mutations may be inherited fro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertebral Column
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 (a flexible rod of uniform composition) found in all chordata, chordates has been replaced by a segmented series of bone: vertebrae separated by intervertebral discs. Individual vertebrae are named according to their region and position, and can be used as anatomical landmarks in order to guide procedures such as Lumbar puncture, lumbar punctures. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord. There are about 50,000 species of animals that have a vertebral column. The human vertebral column is one of the most-studied examples. Many different diseases in humans can affect the spine, with spina bifida and scoliosis being recognisable examples. The general structure of human vertebrae is fairly typical of that found in mammals, reptiles, and birds. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroblast Growth Factor Receptor-3
Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the ''FGFR3'' gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location q16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys. The FGFR3 gene produces various forms of the FGFR3 protein; the location varies depending on the isoform of the FGFR3 protein. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions. Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia. Function The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
