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Hemifacial Microsomia
Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. If severe, it may result in difficulties in breathing due to obstruction of the trachea—sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate. HFM shares many similarities with Treacher Collins syndrome. Presentation The clinical presentation of HFM is quite variable. The severity may depend on the extent of the area with an insufficient blood supply ''in utero'', and the gestational age of the fetus at which this occurs. In some people, the only physical manifestation may be a small and underdeveloped external ear. In more severe cases, multiple parts of the face may be affected. Some people with HFM may have s ...
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Craniofacial Surgery
Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures. Although craniofacial treatment often involves manipulation of bone, craniofacial surgery is not tissue-specific; craniofacial surgeons deal with bone, skin, nerve, muscle, teeth, and other related anatomy. Defects typically treated by craniofacial surgeons include craniosynostosis (isolated and syndromic), rare craniofacial clefts, acute and chronic sequelae of facial fractures, cleft lip and palate, micrognathia, Treacher Collins Syndrome, Apert's Syndrome, Crouzon's Syndrome, Craniofacial microsomia, microtia and other congenital ear anomalies, and many others.Training in craniofacial surgery requires completion of a Craniofacial surgery fellowship. Such fellowships are available to individuals who have completed residency in oral and maxillofacial surgery, plastic and reconstructive surgery, or ENT surgery . Those ...
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Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ...
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Parry–Romberg Syndrome
Parry–Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise cause and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 and 15 years of age. In addition to the connective tissue disease, the condition is sometimes accompanied by neurological, ocular and oral symptoms. The range and severity of associated symptoms and findings are highly variable. Signs and symptoms Skin and connective tissues Initial facial changes usually involve the area of the face covered by the temporal or buccinator muscles. The di ...
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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 underdevelop ...
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Condylar Hypoplasia
Condylar hypoplasia is known as underdevelopment of the mandibular condyle. Congenitally (primary) caused condylar hypoplasia leads to underdeveloped condyle at birth. Hypoplasia of mandible can be diagnosed during birth, in comparison to the hyperplasia which is only diagnosed later in growth of an individual. Types Congenital (primary) Congenital condylar hypoplasia happens when a person is born with smaller condyle than normal. The small condyle can be present either one or both sides of the lower jaw. This type of condition usually happens as part of systemic diseases such as Hemifacial microsomia, Mandibulofacial Dysostosis, Goldenhar syndrome, Hurler syndrome, Proteus syndrome and Morquio syndrome. Acquired (secondary) Acquired condylar hypoplasia happens when a person is not born with a small condyle but they sustain an injury during their growth which leads to this condition. The injury causes stop of growth in the condyle, resulting in a smaller condyle. The ty ...
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Bone Anchored Hearing Aid
A bone-anchored hearing aid (BAHA) is a type of hearing aid based on bone conduction. It is primarily suited for people who have conductive hearing losses, unilateral hearing loss, single-sided deafness and people with mixed hearing losses who cannot otherwise wear 'in the ear' or 'behind the ear' hearing aids. They are more expensive than conventional hearing aids, and their placement involves invasive surgery which carries a risk of complications, although when complications do occur, they are usually minor. Two of the causes of hearing loss are lack of function in the inner ear (cochlea) and when the sound has problems in reaching the nerve cells of the inner ear. Examples of the first include age-related hearing loss and hearing loss due to noise exposure. A patient born without external ear canals is an example of the latter for which a conventional hearing aid with a mould in the ear canal opening would not be effective. Some with this condition have normal inner ear func ...
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Distraction Osteogenesis
Distraction osteogenesis (DO), also called callus distraction, callotasis and osteodistraction, is a process used in orthopedic surgery, podiatric surgery, and oral and maxillofacial surgery to repair skeletal deformities and in reconstructive surgery. The procedure involves cutting and slowly separating bone, allowing the bone healing process to fill in the gap. Medical uses Distraction osteogenesis (DO) is used in orthopedic surgery, and oral and maxillofacial surgery to repair skeletal deformities and in reconstructive surgery. It was originally used to treat problems like unequal leg length, but since the 1980s is most commonly used to treat issues like hemifacial microsomia, micrognathism (chin so small it causes health problems), craniofrontonasal dysplasias, craniosynostosis, as well as airway obstruction in babies caused by glossoptosis (tongue recessed too far back in the mouth) or micrognathism. In 2016, a systematic review of papers describing bone and soft tis ...
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Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned skin ...
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Ischemia
Ischemia or ischaemia is a restriction in blood supply to any tissue, muscle group, or organ of the body, causing a shortage of oxygen that is needed for cellular metabolism (to keep tissue alive). Ischemia is generally caused by problems with blood vessels, with resultant damage to or dysfunction of tissue i.e. hypoxia and microvascular dysfunction. It also implies local hypoxia in a part of a body resulting from constriction (such as vasoconstriction, thrombosis, or embolism). Ischemia causes not only insufficiency of oxygen, but also reduced availability of nutrients and inadequate removal of metabolic wastes. Ischemia can be partial (poor perfusion) or total blockage. The inadequate delivery of oxygenated blood to the organs must be resolved either by treating the cause of the inadequate delivery or reducing the oxygen demand of the system that needs it. For example, patients with myocardial ischemia have a decreased blood flow to the heart and are prescribed with medi ...
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Coagulation
Coagulation, also known as clotting, is the process by which blood changes from a liquid to a gel, forming a blood clot. It potentially results in hemostasis, the cessation of blood loss from a damaged vessel, followed by repair. The mechanism of coagulation involves activation, adhesion and aggregation of platelets, as well as deposition and maturation of fibrin. Coagulation begins almost instantly after an injury to the endothelium lining a blood vessel. Exposure of blood to the subendothelial space initiates two processes: changes in platelets, and the exposure of subendothelial tissue factor to plasma factor VII, which ultimately leads to cross-linked fibrin formation. Platelets immediately form a plug at the site of injury; this is called ''primary hemostasis. Secondary hemostasis'' occurs simultaneously: additional coagulation (clotting) factors beyond factor VII ( listed below) respond in a cascade to form fibrin strands, which strengthen the platelet plug. Disorders of ...
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Gestational Age (obstetrics)
In obstetrics, gestational age is a measure of the age of a pregnancy which is taken from the beginning of the woman's last menstrual period (LMP), or the corresponding age of the gestation as estimated by a more accurate method if available. Such methods include adding 14 days to a known duration since fertilization (as is possible in in vitro fertilization), or by obstetric ultrasonography. The popularity of using this definition of gestational age is that menstrual periods are essentially always noticed, while there is usually a lack of a convenient way to discern when fertilization occurred. Gestational age is contrasted with fertilization age which takes the date of fertilization as the start date of gestation. The initiation of pregnancy for the calculation of gestational age can differ from definitions of initiation of pregnancy in context of the abortion debate or beginning of human personhood. Methods According to American College of Obstetricians and Gynecologists, th ...
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Fetus
A fetus or foetus (; plural fetuses, feti, foetuses, or foeti) is the unborn offspring that develops from an animal embryo. Following embryonic development the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilization (or eleventh week gestational age) and continues until birth. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location. Etymology The word ''fetus'' (plural ''fetuses'' or '' feti'') is related to the Latin '' fētus'' ("offspring", "bringing forth", "hatching of young") and the Greek "φυτώ" to plant. The word "fetus" was used by Ovid in Metamorphoses, book 1, line 104. The predominant British, Irish, and Commonwealth spelling is '' ...
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