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Kurt Hirschhorn
Kurt Hirschhorn (May 18, 1926) - November 25, 2022 was an Austrian-born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf–Hirschhorn syndrome. Early life Hirschhorn was born in Vienna. Fleeing anti-Semitic persecution, the family relocated to Switzerland, then to the US, briefly in New York City before settling in Pittsburgh, Pennsylvania. Career Hirschhorn was Professor of Pediatrics, Genetics and Genomic Sciences, and Medicine Chairman Emeritus of Pediatrics at the Icahn School of Medicine at Mount Sinai in New York City. He is a fellow of the Hastings Center, an independent bioethics research institution. Honors and awards In 1995, Hirschhorn received the William Allan Award in human medical genetics. Personal life Hirschhorn is married to Rochelle Hirschhorn, who was chief of the Division of Medical Genetics at New York University for 24 years. Their son Joel Hirschhorn is also a human geneticist. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wolf–Hirschhorn Syndrome
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16.3)). Features include a distinct craniofacial phenotype and intellectual disability. Signs and symptoms The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplasia, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness. Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal. Genetics Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a Deletion (genetics), deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hastings Center Fellows
Hastings () is a large seaside town and borough in East Sussex on the south coast of England, east to the county town of Lewes and south east of London. The town gives its name to the Battle of Hastings, which took place to the north-west at Senlac Hill in 1066. It later became one of the medieval Cinque Ports. In the 19th century, it was a popular seaside resort, as the railway allowed tourists and visitors to reach the town. Today, Hastings is a fishing port with the UK's largest beach-based fishing fleet. It has an estimated population of 92,855 as of 2018. History Early history The first mention of Hastings is found in the late 8th century in the form ''Hastingas''. This is derived from the Old English tribal name '' Hæstingas'', meaning 'the constituency (followers) of Hæsta'. Symeon of Durham records the victory of Offa in 771 over the ''Hestingorum gens'', that is, "the people of the Hastings tribe." Hastingleigh in Kent was named after that tribe. The place nam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Austrian Jews
The history of the Jews in Austria probably begins with the Jewish diaspora, exodus of Jews from History of ancient Israel and Judah#Roman occupation, Judea under Roman occupation. Over the course of many centuries, the political status of the community rose and fell many times: during certain periods, the Jewish community prospered and enjoyed political equality, and during other periods it suffered pogroms, deportations to concentration camps and mass murder, and antisemitism. The Holocaust drastically reduced the Jewish community in Austria and only 8,140 Jews remained in Austria according to the 2001 census, though other estimates place the current figure at 9,000, 15,000, or 20,000 people, if accounting for those of mixed descent. Antiquity Jews have been in Austria since at least the 3rd century CE. In 2008 a team of archeologists discovered a third-century CE amulet in the form of a gold scroll with the words of the Jewish prayer Shema Yisrael (Hear, O Israel! The Lord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Austrian Emigrants To The United States
Austrian may refer to: * Austrians, someone from Austria or of Austrian descent ** Someone who is considered an Austrian citizen, see Austrian nationality law * Austrian German dialect * Something associated with the country Austria, for example: ** Austria-Hungary ** Austrian Airlines (AUA) ** Austrian cuisine ** Austrian Empire ** Austrian monarchy ** Austrian German (language/dialects) ** Austrian literature ** Austrian nationality law ** Austrian Service Abroad ** Music of Austria ** Austrian School of Economics * Economists of the Austrian school of economic thought * The Austrian Attack variation of the Pirc Defence chess opening. See also * * * Austria (other) * Australian (other) * L'Autrichienne (other) is the feminine form of the French word , meaning "The Austrian". It may refer to: *A derogatory nickname for Queen Marie Antoinette of France *L'Autrichienne (film), ''L'Autrichienne'' (film), a 1990 French film on Marie Antoinette wit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Geneticists
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of skill and knowledge), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healing, o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Geneticists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1926 Births
Events January * January 3 – Theodoros Pangalos (general), Theodoros Pangalos declares himself dictator in Greece. * January 8 **Abdul-Aziz ibn Saud is crowned King of Kingdom of Hejaz, Hejaz. ** Bảo Đại, Crown Prince Nguyễn Phúc Vĩnh Thuy ascends the throne, the last monarch of Vietnam. * January 12 – Freeman Gosden and Charles Correll premiere their radio program ''Sam 'n' Henry'', in which the two white performers portray two black characters from Harlem looking to strike it rich in the big city (it is a precursor to Gosden and Correll's more popular later program, ''Amos 'n' Andy''). * January 16 – A BBC comic radio play broadcast by Ronald Knox, about a workers' revolution, causes a panic in London. * January 21 – The Belgian Parliament accepts the Locarno Treaties. * January 26 – Scottish inventor John Logie Baird demonstrates a mechanical television system at his London laboratory for members of the Royal Institution and a report ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micrognathia
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 While not always pathological, it can present as a birth defect in multiple syndromes including: * Catel–Manzke syndrome * Bloom syndrome * Coffin–Lowry syndrome * Congenital rubella syndrome * Cri du chat syndrome * DiGeorge syndrome * Ehlers–Danlos syndrome * Fetal alcohol syndrome * Hallermann–Streiff syndrome * Hemifacial microsomia (as part of Goldenhar syndrome) * Incontinentia pigmenti * Juvenile idiopathic arthritis * Marfan syndrome * Möbius syndrome * Noonan syndrome * Pierre Robin syndrome * Prader–Willi syndrome * Progeria * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum ( la, philtrum from Ancient Greek ''phíltron,'' lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by ridges, is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher primates rely more on vision ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthus
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 t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
