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Keutel Syndrome
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein, ''MGP''. Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected ''MGP'' alleles will likely inherit KS. It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata. Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypoto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alae Nasi
A nostril (or naris , plural ''nares'' ) is either of the two orifices of the nose. They enable the entry and exit of air and other gasses through the nasal cavities. In birds and mammals, they contain branched bones or cartilages called turbinates, whose function is to warm air on inhalation and remove moisture on exhalation. Fish do not breathe through noses, but they do have two (but cyclostomes have merged into one) small holes used for smelling, which can also be referred to as nostrils. In humans, the nasal cycle is the normal ultradian cycle of each nostril's blood vessels becoming engorged in swelling, then shrinking. The nostrils are separated by the septum. The septum can sometimes be deviated, causing one nostril to appear larger than the other. With extreme damage to the septum and columella, the two nostrils are no longer separated and form a single larger external opening. Like other tetrapods, humans have two external nostrils (anterior nares) and two additi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phalanx Bone
The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and large toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphic
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, Genetics, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-radiation
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30 petahertz to 30 exahertz ( to ) and energies in the range 145 eV to 124 keV. X-ray wavelengths are shorter than those of UV rays and typically longer than those of gamma rays. In many languages, X-radiation is referred to as Röntgen radiation, after the German scientist Wilhelm Conrad Röntgen, who discovered it on November 8, 1895. He named it ''X-radiation'' to signify an unknown type of radiation.Novelline, Robert (1997). ''Squire's Fundamentals of Radiology''. Harvard University Press. 5th edition. . Spellings of ''X-ray(s)'' in English include the variants ''x-ray(s)'', ''xray(s)'', and ''X ray(s)''. The most familiar use of X-rays is checking for fractures (broken bones), but X-rays are also used in other ways. Fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Computed Tomography
A computed tomography scan (CT scan; formerly called computed axial tomography scan or CAT scan) is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or radiology technologists. CT scanners use a rotating X-ray tube and a row of detectors placed in a gantry to measure X-ray attenuations by different tissues inside the body. The multiple X-ray measurements taken from different angles are then processed on a computer using tomographic reconstruction algorithms to produce tomographic (cross-sectional) images (virtual "slices") of a body. CT scans can be used in patients with metallic implants or pacemakers, for whom magnetic resonance imaging (MRI) is contraindicated. Since its development in the 1970s, CT scanning has proven to be a versatile imaging technique. While CT is most prominently used in medical diagnosis, it can also be used to form images of non-living objects. The 1979 Nob ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex and allocortex. It is typically non-invasive, with the EEG electrodes placed along the scalp (commonly called "scalp EEG") using the International 10-20 system, or variations of it. Electrocorticography, involving surgical placement of electrodes, is sometimes called " intracranial EEG". Clinical interpretation of EEG recordings is most often performed by visual inspection of the tracing or quantitative EEG analysis. Voltage fluctuations measured by the EEG bioamplifier and electrodes allow the evaluation of normal brain activity. As the electrical activity monitored by EEG originates in neurons in the underlying brain tissue, the recordings made by the electrodes on the surface of the scalp vary in accordance with their orientation and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Bridge
The nasal bridge is the upper, bony part of the human nose, which overlies the nasal bones. Association with epicanthic folds Low-rooted nasal bridges are closely associated with epicanthic folds. A lower nasal bridge is more likely to cause an epicanthic fold, and vice versa. Dysmorphology A lower or higher than average nasal bridge can be a sign of various genetic disorders, such as fetal alcohol syndrome. A flat nasal bridge can be a sign of Down syndrome (Trisomy 21), Fragile X syndrome, 48,XXXY variant Klinefelter syndrome, or Bartarlla-Scott syndrome. An appearance of a widened nasal bridge can be seen with dystopia canthorum, which is a lateral displacement of the inner canthi of the eyes. from UTMB, Dept. of Otolaryngology. DATE: March 17, 2004. RESIDENT PHYSICIAN: Jing Shen. FACUL ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epiglottis
The epiglottis is a leaf-shaped flap in the throat that prevents food and water from entering the trachea and the lungs. It stays open during breathing, allowing air into the larynx. During swallowing, it closes to prevent aspiration of food into the lungs, forcing the swallowed liquids or food to go along the oesophagus toward the stomach instead. It is thus the valve that diverts passage to either the trachea or the oesophagus. The epiglottis is made of elastic cartilage covered with a mucous membrane, attached to the entrance of the larynx. It projects upwards and backwards behind the tongue and the hyoid bone. The epiglottis may be inflamed in a condition called epiglottitis, which is most commonly due to the vaccine-preventable bacteria ''Haemophilus influenzae''. Dysfunction may cause the inhalation of food, called aspiration, which may lead to pneumonia or airway obstruction. The epiglottis is also an important landmark for intubation. The epiglottis has been identif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pinna (anatomy)
The auricle or auricula is the visible part of the ear that is outside the head. It is also called the pinna (Latin for "wing" or "fin", plural pinnae), a term that is used more in zoology. Structure The diagram shows the shape and location of most of these components: * ''antihelix'' forms a 'Y' shape where the upper parts are: ** ''Superior crus'' (to the left of the ''fossa triangularis'' in the diagram) ** ''Inferior crus'' (to the right of the ''fossa triangularis'' in the diagram) * ''Antitragus'' is below the ''tragus'' * ''Aperture'' is the entrance to the ear canal * ''Auricular sulcus'' is the depression behind the ear next to the head * ''Concha'' is the hollow next to the ear canal * Conchal angle is the angle that the back of the ''concha'' makes with the side of the head * ''Crus'' of the helix is just above the ''tragus'' * ''Cymba conchae'' is the narrowest end of the ''concha'' * External auditory meatus is the ear canal * ''Fossa triangularis'' is the depres ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tracheobronchial Tree
The respiratory tract is the subdivision of the respiratory system involved with the process of respiration in mammals. The respiratory tract is lined with respiratory epithelium as respiratory mucosa. Air is breathed in through the nose to the nasal cavity, where a layer of nasal mucosa acts as a filter and traps pollutants and other harmful substances found in the air. Next, air moves into the pharynx, a passage that contains the intersection between the oesophagus and the larynx. The opening of the larynx has a special flap of cartilage, the epiglottis, that opens to allow air to pass through but closes to prevent food from moving into the airway. From the larynx, air moves into the trachea and down to the intersection known as the carina that branches to form the right and left primary (main) bronchi. Each of these bronchi branches into a secondary (lobar) bronchus that branches into tertiary (segmental) bronchi, that branch into smaller airways called bronchioles that ev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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