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Wormian Bone
Wormian bones, also known as intrasutural bones or sutural bones, are extra bone pieces that can occur within a suture (joint) in the skull. These are irregular isolated bones that can appear in addition to the usual centres of ossification of the skull and, although unusual, are not rare. They occur most frequently in the course of the lambdoid suture, which is more tortuous than other sutures. They are also occasionally seen within the sagittal and coronal sutures. A large wormian bone at lambda is often called an Inca bone (''os incae''), due to the relatively high frequency of occurrence in Peruvian mummies. Another specific Wormian bone, the pterion ossicle, sometimes exists between the sphenoidal angle of the parietal bone and the great wing of the sphenoid bone. They tend to vary in size and can be found on either side of the skull. Usually, not more than several are found in a single individual, but more than one hundred have been once found in the skull of a hydrocephali ...
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Bone
A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, and enable mobility. Bones come in a variety of shapes and sizes and have complex internal and external structures. They are lightweight yet strong and hard and serve multiple functions. Bone tissue (osseous tissue), which is also called bone in the uncountable sense of that word, is hard tissue, a type of specialized connective tissue. It has a honeycomb-like matrix internally, which helps to give the bone rigidity. Bone tissue is made up of different types of bone cells. Osteoblasts and osteocytes are involved in the formation and mineralization of bone; osteoclasts are involved in the resorption of bone tissue. Modified (flattened) osteoblasts become the lining cells that form a protective layer on the bone surface. The mineralize ...
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Pycnodysostosis
Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", ''dys'' ("defective"), and ''ostosis'' ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse Lautrec (1864-1901) is believed to have had the disease. Signs and symptoms Pycnodysostosis causes the bones to be abnormally dense; the last bones of the fingers (the distal phalanges) to be unusually short ...
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Embryology
Embryology (from Greek ἔμβρυον, ''embryon'', "the unborn, embryo"; and -λογία, ''-logia'') is the branch of animal biology that studies the prenatal development of gametes (sex cells), fertilization, and development of embryos and fetuses. Additionally, embryology encompasses the study of congenital disorders that occur before birth, known as teratology. Early embryology was proposed by Marcello Malpighi, and known as preformationism, the theory that organisms develop from pre-existing miniature versions of themselves. Aristotle proposed the theory that is now accepted, epigenesis. Epigenesis is the idea that organisms develop from seed or egg in a sequence of steps. Modern embryology, developed from the work of Karl Ernst von Baer, though accurate observations had been made in Italy by anatomists such as Aldrovandi and Leonardo da Vinci in the Renaissance. Comparative embryology Preformationism and epigenesis As recently as the 18th century, the pre ...
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Ole Worm
Ole Worm (13 May 1588 – 31 August 1654), who often went by the Latinized form of his name Olaus Wormius, was a Danish physician, natural historian and antiquary. He was a professor at the University of Copenhagen where he taught Greek, Latin, physics and medicine. Biography Worm was the son of Willum Worm, who served as the mayor of Aarhus, and was made a rich man by an inheritance from his father. Ole Worm's grandfather Johan Worm, a magistrate in Aarhus, was a Lutheran who had fled from Arnhem in Gelderland while it was under Catholic rule. Worm married Dorothea Fincke, the daughter of a friend and colleague, Thomas Fincke. Fincke was a Danish mathematician and physicist, who invented the terms 'tangent' and ' secant' and taught at the University of Copenhagen for more than 60 years. Through Fincke, Worm became connected to the powerful Bartholin family of physicians, and later theologians and scientists, that dominated the University of Copenhagen throughout the 17th ...
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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 ...
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Primary Acro-osteolysis
Primary or primaries may refer to: Arts, entertainment, and media Music Groups and labels * Primary (band), from Australia * Primary (musician), hip hop musician and record producer from South Korea * Primary Music, Israeli record label Works * ''Primary'' (album) by Rubicon (2002) * "Primary" (song) by The Cure * "Primary", song by Spoon from the album ''Telephono'' Other uses in arts, entertainment, and media * Primaries or primary beams, in E. E. Smith's science-fiction series ''Lensman'' * ''Primary'' (film), American political documentary (1960) Computing * PRIMARY, an X Window selection * Primary data storage, computer technology used to retain digital data * Primary server, main server on the server farm Education * Primary education, the first stage of compulsory education * Primary FRCA, academic examination for anaesthetists in the U.K. * Primary school, school providing primary education Mathematics * ''p''-group of prime power order * Primary decomposit ...
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Otopalatodigital Syndrome
Oto-palato-digital syndrome is the generalised term for two conditions, oto-palato-digital syndrome type I (OPD1) and oto-palato-digital syndrome type II (OPD2), that are both X-linked recessive genetic disorders with overlapping phenotypes. The most severe phenotypes of each syndrome occur only in males, with females generally having attenuated forms of the condition, although this does not apply to all individual cases. Some writers conceptualise oto-palato-digital syndrome as a spectrum disorder including two similarly-presenting genetic syndromes, frontometaphyseal dysplasia and Melnick-Needles syndrome. The conditions are characterised by skeletal abnormalities, cleft palate (a hole in the roof of the mouth), and hearing loss. These symptoms are common to craniofacial syndromes as a whole. Hand defects are particularly associated. Of the conditions, OPD1 has the milder phenotype, with normal intelligence and modestly reduced stature. In OPD2, the characteristic facial featu ...
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Hypophosphatasia
Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's syndrome; sometimes abbreviated HPP) is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 388 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms. The prevalence of hypophosphatasia is not known; one stud ...
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Hypothyroidism
Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as poor ability to tolerate cold, a feeling of tiredness, constipation, slow heart rate, depression, and weight gain. Occasionally there may be swelling of the front part of the neck due to goiter. Untreated cases of hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, too little iodine in the diet is the most common cause of hypothyroidism. Hashimoto's thyroiditis is the most common cause of hypothyroidism in countries with sufficient dietary iodine. Less common causes include previous treatment with radioactive iodine, injury to the hypothalamus or the anterior pituitary gland, certain medications, a lack of a functioning thyroi ...
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Cleidocranial Dysostosis
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected. The condition is either inherited from a person's parents or occurs as a new mutation. It is inherited in an autosomal dominant manner. It is due to a defect in the RUNX2 gene which is involved in bone formation. Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. Tr ...
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Menke's Syndrome
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Like all X-linked recessive conditions, Menkes disease is more common in males than in females. The disorder was first described by John Hans Menkes in 1962. Onset occurs during infancy, with incidence of about 1 in 100,000 to 250,000 newborns; affected infants often do not live past the age of three years, though there are rare cases in which less severe symptoms emerge later in childhood. Signs and symptoms Affected infants may be born prematurely. Signs and symptoms appear during infancy, typically after a two- to three-month period of normal or slightly slowed development that is followed by a loss of early developmental skills and subsequent developmental delay. Patients exhibit hypoto ...
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Rickets
Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine. The most common cause of rickets is a vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. Prevention for exclusively breastfed bab ...
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