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Goldenhar Syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. It is associated with anomalous development of the first branchial arch and second branchial arch. The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption. It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2. Signs and symptoms Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Typically, the organ will either not be present on one side or will be underdevel ...
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Skin Tags
A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases (or rubs together), such as the neck, armpit and groin. They may also occur on the face, usually on the eyelids. Though tags up to half an inch (12.7 mm) long have been seen, they are typically the size of a grain of rice. The surface of an acrochordon may be smooth or irregular in appearance and is often raised from the surface of the skin on a fleshy stalk called a peduncle. Microscopically, an acrochordon consists of a fibrovascular core, sometimes also with fat cells, covered by an unremarkable epidermis. However, tags may become irritated by shaving, clothing, jewellery or eczema. Etiology Skin tags are thought to occur from skin rubbing against skin, since they are so often found in skin creases and folds. Studies have shown existence of low-risk human papillomaviruses 6 and 11 in skin tags, hinting at a possible role in their pathogenesis, al ...
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Hearing Loss With Craniofacial Syndromes
Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer ear, outer or middle ear, making a significant hearing loss highly likely. Treacher Collins syndrome Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities. Hearing loss is often secondary to absent, small or unusually formed ears (microtia) and commonly results from malformations of the middle ear. Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and symmetrically dysmorphic or absent ossicles in the middle ear space. Inner ear structure is largely normal. Most patients show a moderate hearing impairment or greater, and the type of loss is generally a conductive hearing loss. Patients with Treacher Collins syndrome exhibit hearing losses similar to those of patients with malformed or missing ossi ...
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Syndromes With Tumors
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ...
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Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ...
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Maurice Goldenhar
Maurice Goldenhar (January 15, 1924 – September 11, 2001) was a Belgian– American ophthalmologist and general practitioner. He emigrated from Belgium to the United States in 1940. He later returned to Europe for medical studies, and then returned once again to the United States. He first diagnosed what became known as Goldenhar syndrome Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin ta ... in 1952. References 1924 births 2001 deaths Belgian emigrants to the United States Belgian ophthalmologists {{US-med-bio-stub ...
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Hearing Aids
A hearing aid is a device designed to improve hearing by making sound audible to a person with hearing loss. Hearing aids are classified as medical devices in most countries, and regulated by the respective regulations. Small audio amplifiers such as personal sound amplification products (PSAPs) or other plain sound reinforcing systems cannot be sold as "hearing aids". Early devices, such as ear trumpets or ear horns, were passive amplification cones designed to gather sound energy and direct it into the ear canal. Modern devices are computerised electroacoustic systems that transform environmental sound to make it audible, according to audiometrical and cognitive rules. Modern devices also utilize sophisticated digital signal processing to try and improve speech intelligibility and comfort for the user. Such signal processing includes feedback management, wide dynamic range compression, directionality, frequency lowering, and noise reduction. Modern hearing aids require con ...
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Macrosomia
Large for gestational age (LGA) is a term used to describe infants that are born with an abnormally high weight, specifically in the 90th percentile or above, compared to other babies of the same developmental age. Macrosomia is a similar term that describes excessive birth weight, but refers to an absolute measurement, regardless of gestational age. Typically the threshold for diagnosing macrosomia is a body weight of between , or more, measured at birth, but there are difficulties reaching a universal agreement of this definition. Evaluating an infant for macrosomia or LGA can help identify risks associated with their birth, including labor complications of both the parent and the child, potential long-term health complications of the child, and infant mortality. Signs and symptoms Fetal macrosomia and LGA often do not present with noticeable patient symptoms. Important signs include large fundal height ( uterus size) and excessive amniotic fluid (polyhydramnios). Fundal heigh ...
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Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difference such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, even the highest intensity sou ...
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Skin Tag
A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases (or rubs together), such as the neck, armpit and groin. They may also occur on the face, usually on the eyelids. Though tags up to half an inch (12.7 mm) long have been seen, they are typically the size of a grain of rice. The surface of an acrochordon may be smooth or irregular in appearance and is often raised from the surface of the skin on a fleshy stalk called a peduncle. Microscopically, an acrochordon consists of a fibrovascular core, sometimes also with fat cells, covered by an unremarkable epidermis. However, tags may become irritated by shaving, clothing, jewellery or eczema. Etiology Skin tags are thought to occur from skin rubbing against skin, since they are so often found in skin creases and folds. Studies have shown existence of low-risk human papillomaviruses 6 and 11 in skin tags, hinting at a possible role in their pathogenes ...
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Microtia
Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. Microtia can be unilateral (one side only) or bilateral (affecting both sides). Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected. It may occur as a complication of taking Accutane (isotretinoin) during pregnancy. Classification According to the Altman-classification, there are four grades of microtia: *Grade I: A less than complete development of the external ear with identifiable structures and a small but present external ear canal *Grade II: A partially developed ear (usually the top portion is underdeveloped) with a closed stenotic external ear canal producing a conductive hearing loss. *Grade III: Absence of the external ear with a small peanut-like vestige structure a ...
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Gulf War
The Gulf War was a 1990–1991 armed campaign waged by a Coalition of the Gulf War, 35-country military coalition in response to the Iraqi invasion of Kuwait. Spearheaded by the United States, the coalition's efforts against Ba'athist Iraq, Iraq were carried out in two key phases: Operation Desert Shield, which marked the military buildup from August 1990 to January 1991; and Operation Desert Storm, which began with the Gulf War air campaign, aerial bombing campaign against Iraq on 17 January 1991 and came to a close with the American-led Liberation of Kuwait campaign, Liberation of Kuwait on 28 February 1991. On 2 August 1990, Iraq invaded the neighbouring Kuwait, State of Kuwait and had fully occupied the country within two days. Initially, Iraq ran the occupied territory under a puppet government known as the "Republic of Kuwait" before proceeding with an outright annexation in which Kuwaiti sovereign territory was split, with the "Saddamiyat al-Mitla' District" being car ...
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