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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. F ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Face Of SpooSpa
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely. Structure The front of the human head is called the face. It includes several distinct areas, of which the main features are: *The forehead, comprising the skin beneath the hairline, bordered laterally by the temples and inferiorly by eyebrows and ears *The eyes, sitting in the orbit and protected by eyelids and eyelashes * The distinctive human nose shape, nostrils, and nasal septum *The cheeks, covering the maxilla and mandibula (or jaw), the extremity of which is the chin *The mouth, with the upper lip divided by the philtrum, sometimes revealing the teeth Facial appearance is vital for human recognition and communication. Facial muscles in humans allow expression of emotions. The face is itself a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Nose
The human nose is the most protruding part of the face. It bears the nostrils and is the first organ of the respiratory system. It is also the principal organ in the olfactory system. The shape of the nose is determined by the nasal bones and the nasal cartilages, including the nasal septum which separates the nostrils and divides the nasal cavity into two. On average the nose of a male is larger than that of a female. The nose has an important function in breathing. The nasal mucosa lining the nasal cavity and the paranasal sinuses carries out the necessary conditioning of inhaled air by warming and moistening it. Nasal conchae, shell-like bones in the walls of the cavities, play a major part in this process. Filtering of the air by nasal hair in the nostrils prevents large particles from entering the lungs. Sneezing is a reflex to expel unwanted particles from the nose that irritate the mucosal lining. Sneezing can transmit infections, because aerosols are created ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Bone
The nasal bones are two small oblong bones, varying in size and form in different individuals; they are placed side by side at the middle and upper part of the face and by their junction, form the bridge of the upper one third of the nose. Each has two surfaces and four borders. Structure The two nasal bones are joined at the midline internasal suture and make up the bridge of the nose. Surfaces The ''outer surface'' is concavo-convex from above downward, convex from side to side; it is covered by the procerus and nasalis muscles, and perforated about its center by a foramen, for the transmission of a small vein. The ''inner surface'' is concave from side to side, and is traversed from above downward, by a groove for the passage of a branch of the nasociliary nerve. Articulations The nasal articulates with four bones: two of the cranium, the frontal and ethmoid, and two of the face, the opposite nasal and the maxilla. Other animals In primitive bony fish and tetr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthic Fold
An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.Lang, Berel (ed.) (2000) ''Race and Racism in Theory and Practice'', Rowman & Littlefield, p. 10 Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions. Etymology ''Epicanthus'' means 'above the canthus', with epi-canthus being the Latinized form of the Ancient Greek : 'corner of the eye'. Classification Variation in the shape of the epicanthic fold has led to four types being recognised: * ''Epicanthus supraciliaris'' runs from the brow, curving downwards towards the lachrymal sac. * ''Epicanthus palpebralis'' begins above the upper tarsus and extends to the inferior orbital rim. * ''Epicanthus tarsalis'' originates at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Down Syndrome
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often abor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the '' FMR1'' (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing ( methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klinefelter Syndrome
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty. Intelligence is usually normal, but reading difficulties and problems with speech are more common. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. KS is diagnosed by the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bartarlla-Scott Syndrome
Xylosyltransferase 1 is an enzyme that in humans is encoded by the ''XYLT1'' gene. Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within XT recognition sequences of target proteins. Addition of this xylose to the core protein is required for the biosynthesis of the glycosaminoglycan chains characteristic of proteoglycans. upplied by OMIMref name="entrez" /> Clinical relevance Baratela-Scott syndrome In 2012 Baratela-Scott syndrome was identified in humans. A GGC repeat expansion, and methylation of exon 1 of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. Patients with Bartarlla-Scott syndrome exhibit abnormal development of the skeleton, characteristic facial features, and cognitive developmental delay. Skeletal problems include knee cap in the wrong position, short long bones with mild changes to the narrow portion, short palm bones with stub thumbs, short thigh necks, shallow hip sockets, and mal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dystopia Canthorum
Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the eyelids is called the intercanthal distance. In most people, the intercanthal distance is equal to the width of each eye (the distance between the inner and outer corners of each eye). The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm. ''Traumatic telecanthus'' refers to telecanthus resulting from traumatic injury to the nasal- orbital-ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The pathology can be either unilateral or bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
