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Phocomelia
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. The term is from Ancient Greek φώκη ''phōkē'', " seal (animal)" + ''-o-'' interfix + μέλος ''melos'', "limb" + ια ''-ia'' suffix). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs ( dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. Signs and symptoms The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide Scandal
In the late 1950s and early 1960s, the use of thalidomide in 46 countries was prescribed to women who were pregnant or who subsequently became pregnant, and consequently resulted in the "biggest anthropogenic medical disaster ever," with more than 10,000 children born with a range of severe deformities, such as phocomelia, as well as thousands of miscarriages. Thalidomide was introduced in 1957 as a tranquilizer, and was later marketed by the German pharmaceutical company Chemie Grünenthal under the trade name Contergan as a medication for anxiety, trouble sleeping, tension, and morning sickness. It was introduced as a sedative and medication for morning sickness without having been tested on pregnant women. While initially deemed to be safe in pregnancy, concerns regarding birth defects were noted in 1961, and the medication was removed from the market in Europe that year. Development of thalidomide Thalidomide was first developed as a tranquilizer by Swiss pharmaceuti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide
Thalidomide, sold under the brand names Contergan and Thalomid among others, is an oral administered medication used to treat a number of cancers (e.g., multiple myeloma), graft-versus-host disease, and many skin disorders (e.g., complications of leprosy such as skin lesions). Updated as required. Thalidomide has been used to treat conditions associated with HIV: aphthous ulcers, HIV-associated wasting syndrome, diarrhea, and Kaposi's sarcoma, but increases in HIV viral load have been reported. Common side effects include sleepiness, rash, and dizziness. Severe side effects include tumor lysis syndrome, blood clots, and peripheral neuropathy. Thalidomide is a known human teratogen and carries an extremely high risk of severe, life-threatening birth defects if administered or taken during pregnancy. It causes skeletal deformities such as Amelia (birth defect), amelia (absence of legs and/or arms), absence of bones, and phocomelia (malformation of the limbs). A single dose of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Roberts Syndrome
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals. The syndrome is named after American surgeon and physician John Bingham Roberts (1852–1924), who first described it in 1919. Symptoms and signs The following is a list of symptoms that have been associated with Roberts syndrome: * Bilateral symmetric tetraphocomeli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide
Thalidomide, sold under the brand names Contergan and Thalomid among others, is an oral administered medication used to treat a number of cancers (e.g., multiple myeloma), graft-versus-host disease, and many skin disorders (e.g., complications of leprosy such as skin lesions). Updated as required. Thalidomide has been used to treat conditions associated with HIV: aphthous ulcers, HIV-associated wasting syndrome, diarrhea, and Kaposi's sarcoma, but increases in HIV viral load have been reported. Common side effects include sleepiness, rash, and dizziness. Severe side effects include tumor lysis syndrome, blood clots, and peripheral neuropathy. Thalidomide is a known human teratogen and carries an extremely high risk of severe, life-threatening birth defects if administered or taken during pregnancy. It causes skeletal deformities such as Amelia (birth defect), amelia (absence of legs and/or arms), absence of bones, and phocomelia (malformation of the limbs). A single dose of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development. Types Dysmelia can refer to * missing ( aplasia) limbs: amelia (including tetraamelia), oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * extra limbs: polymelia, polydactyly, polysyndactyly * others: hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 0.69 per 1000. Causes Dysmelia can be caused by * Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) * external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome * teratogenic drugs (e.g. thalidomide, which cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or developmental disability, 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 disorder, metabolic and degenerative disease, degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic disorder, genetic or chromosome abnormality, chromosomal disorders, exposure to certain medications or chemicals, or certain vertically transmitted infection, infections during pregnancy. Risk factors include folate deficiency, alcohol drink, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Étienne Geoffroy Saint-Hilaire
Étienne Geoffroy Saint-Hilaire (; 15 April 177219 June 1844) was a French naturalist who established the principle of "unity of composition". He was a colleague of Jean-Baptiste Lamarck and expanded and defended Lamarck's evolutionary theories. Geoffroy's scientific views had a transcendental flavor (unlike Lamarck's materialistic views) and were similar to those of German morphologists like Lorenz Oken. He believed in the underlying unity of organismal design, and the possibility of the transmutation of species in time, amassing evidence for his claims through research in comparative anatomy, paleontology, and embryology. He is considered as a predecessor of the evo-devo evolutionary concept. Life and early career Geoffroy was born at Étampes (in present-day Essonne), and studied at the Collège de Navarre, in Paris, where he studied natural philosophy under M. J. Brisson. He then attended the lectures of Louis-Jean-Marie Daubenton at the College de France and Fourcroy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Louis Joseph César Ducornet
Louis Joseph César Ducornet (10 January 1806, Lille – 27 April 1856, Paris) was a French painter who painted with his foot. He is known primarily for biblical and historical scenes, as well as portraits. Biography Ducornet was born to poor parents in Lille on January 10, 1806. His father, Alexandre, was a shoemaker. He had a birth defect, now known as phocomelia. Having neither arms nor thighs, and only four toes to his right foot, he was unable to walk and had to be carried by his father. However, while still a child, he would pick up pieces of coal from the floor with his toes and draw rough sketches on the wall. The natural talent he exhibited led to his receiving some art instruction. With the help of the municipality of Lille, he was sent to Paris in 1824, where he studied under Guillaume Guillon-Lethière, François Louis Joseph Watteau and François Gérard. During the reign of King Louis XVIII he was awarded an annual pension, in the amount of 1,200 Francs, which wa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morning Sickness
Morning sickness, also called nausea and vomiting of pregnancy (NVP), is a symptom of pregnancy. Despite the name, nausea or vomiting can occur at any time during the day. Typically the symptoms occur between the 4th and 16th weeks of pregnancy. About 10% of women still have symptoms after the 20th week of pregnancy. A severe form of the condition is known as hyperemesis gravidarum and results in weight loss. The cause of morning sickness is unknown but may relate to changing levels of the hormone human chorionic gonadotropin. Some have proposed that morning sickness may be useful from an evolutionary point of view. Diagnosis should only occur after other possible causes have been ruled out. Abdominal pain, fever, or headaches are typically not present in morning sickness. Morning sickness affects about 70–80% of all pregnant women to some extent. About 60% of women experience vomiting. Hyperemesis gravidarum occurs in about 1.6% of pregnancies. Morning sickness can neg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micrognathism
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding. It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations. Causes According to the NCBI, the following conditions feature micrognathism: * 11q partial monosomy syndrome * 3-methylglutaconic aciduria, type VIIB * 46,XY sex reversal 4 * 4p partial monosomy syndrome * Achard syndrome * Acrofacial dysostosis Cincinnati type * Acrofacial dysostosis Rodriguez type * Acrofacial dysostosis, Catania type * Acromegaloid facial appearance syndrome * Adams-Oliver syndrome 2 * Agnathia- otocephaly complex * ALG1-congenital disorder of glycosylation * Alveolar capillary dysplasia with pulmonary venous misalignment * Ami ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Matthias Buchinger
Matthias Buchinger (; June 2, 1674 – January 17, 1740), sometimes called Matthew Buckinger in English, was a German artist, magician, calligrapher, and performer who was born without hands or feet and was tall. Buchinger was especially noted for his micrography, in which illustrations consist of very small text. Biography Buchinger was born in Ansbach, Germany, without hands or legs, now considered to be Phocomelia. An artist and performer, he "traveled all over Northern Europe to entertain kings and aristocrats as well as hoi polloi with amazing feats of physical dexterity" and was known as “The Greatest German Living” and "Little Man from Nuremberg". He travelled to England trying to get a court appointment with King George I; unsuccessful, he then moved to Ireland where he gave public demonstrations, in Dublin in 1720 and in Belfast in 1722. He also is rumored to have had children by as many as 70 mistresses. Buchinger's fame was so widespread that in the 1780s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
