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Benjamin Syndrome
Benjamin syndrome is a type of multiple congenital anomaly/intellectual disability (MCA/MR) syndrome. It is characterized by hypochromic anemia with intellectual disability and various craniofacial and other anomalies. It can also include heart murmur, dental caries and splenic tumors. It was first described in the medical literature in 1911.Benjamin E (1911). Über eine selbständige Form der Anämie im frühen Kindersalter. ''Verh Deut Ges Kinderh'', 1911,119-24. Symptoms include megalocephaly, external ear deformities, dental caries, micromelia, hypoplastic bone deformities, hypogonadism, hypochromic anemia with occasional tumors, and 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 signifi ....Jablonski, Stanley (1991). Jablonski's dictionary of syndromes & eponymi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypochromic Anemia
Hypochromic anemia is a generic term for any type of anemia in which the red blood cells are paler than normal. (''Hypo''- refers to ''less'', and ''chromic'' means ''colour''.) A normal red blood cell has a biconcave disk shape and will have an area of pallor in its center when viewed microscopically. In hypochromic cells, this area of central pallor is increased. This decrease in redness is due to a disproportionate reduction of red cell hemoglobin (the pigment that imparts the red color) in proportion to the volume of the cell. Clinically the color can be evaluated by the mean corpuscular hemoglobin (MCH) or mean corpuscular hemoglobin concentration (MCHC). The MCHC is considered the better parameter of the two as it adjusts for effect the size of the cell has on its amount of hemoglobin. Hypochromia is clinically defined as below the normal MCH reference range of 27–33 picograms/cell in adults or below the normal MCHC reference range of 33–36 g/dL in adults. Red blood cells ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial
Craniofacial (''cranio-'' combining form meaning head or skull + ''-facial'' combining form referring to the facial structures grossly) is an adjective referring to the parts of the head enclosing the brain and the face. The term is typically used to describe an area of focus for the study and treatment of certain congenital malformations or facial injuries. The first use of the term was 1859. The first PubMed citation with the use of the term Craniofacial was in 1876 by T. H. Huxley. See also *Craniofacial Team *Craniofacial surgery Craniofacial surgery is a surgical subspecialty that deals with congenital disorder, congenital and acquired deformity, deformities of the human head, head, human skull, skull, face, neck, jaws and associated structures. Although craniofacial treat ... References Oral and maxillofacial surgery {{Anatomy-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Murmur
Heart murmurs are unique heart sounds produced when blood flows across a heart valve or blood vessel. This occurs when turbulent blood flow creates a sound loud enough to hear with a stethoscope. Turbulent blood flow is not smooth. The sound differs from normal heart sounds by their characteristics. For example, heart murmurs may have a distinct pitch, duration and timing. The major way health care providers examine the heart on physical exam is heart auscultation; another clinical technique is palpation, which can detect by touch when such turbulence causes the vibrations called cardiac thrill. A murmur is a sign found during the cardiac exam. Murmurs are of various types and are important in the detection of cardiac and valvular pathologies (i.e. can be a sign of heart diseases or defects). There are two types of murmur. A functional murmur is a benign heart murmur that is primarily due to physiologic conditions outside the heart. The other type of heart murmur is due to a str ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dental Caries
Tooth decay, also known as cavities or caries, is the breakdown of teeth due to acids produced by bacteria. The cavities may be a number of different colors from yellow to black. Symptoms may include pain and difficulty with eating. Complications may include inflammation of the tissue around the tooth, tooth loss and infection or abscess formation. The cause of cavities is acid from bacteria dissolving the hard tissues of the teeth ( enamel, dentin and cementum). The acid is produced by the bacteria when they break down food debris or sugar on the tooth surface. Simple sugars in food are these bacteria's primary energy source and thus a diet high in simple sugar is a risk factor. If mineral breakdown is greater than build up from sources such as saliva, caries results. Risk factors include conditions that result in less saliva such as: diabetes mellitus, Sjögren syndrome and some medications. Medications that decrease saliva production include antihistamines and antide ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splenic
The spleen is an organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The word spleen comes .σπλήν Henry George Liddell, Robert Scott, ''A Greek-English Lexicon'', on Perseus Digital Library The spleen plays very important roles in regard to s (erythrocytes) and the . It removes old red blood cells and holds a reserve of blood, which can be valuable in case of |
Tumor
A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists in growing abnormally, even if the original trigger is removed. This abnormal growth usually forms a mass, when it may be called a tumor. ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of uncertain or unknown behavior. Malignant neoplasms are also simply known as cancers and are the focus of oncology. Prior to the abnormal growth of tissue, as neoplasia, cells often undergo an abnormal pattern of growth, such as metaplasia or dysplasia. However, metaplasia or dysplasia does not always progress to neoplasia and can occur in other conditions as well. The word is from Ancient Greek 'new' and 'formation, creation'. Types A neoplasm can be benign, potentially m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (LWW) is an American imprint of the American Dutch publishing conglomerate Wolters Kluwer. It was established by the acquisition of Williams & Wilkins and its merger with J.B. Lippincott Company in 1998. Under the LWW brand, Wolters Kluwer, through its Health Division, publishes scientific, technical, and medical content such as textbooks, reference works, and over 275 scientific journals (most of which are medical or other public health journals). Publications are aimed at physicians, nurses, clinicians, and students. Overview LWW grew out of the gradual consolidation of various earlier independent publishers by Wolters Kluwer. Predecessor Wolters Samson acquired Raven Press of New York in 1986. Wolters Samson merged with Kluwer in 1987. The merged company bought J. B. Lippincott & Co. of Philadelphia in 1990; it merged Lippincott with the Raven Press to form Lippincott-Raven in 1995. In 1997 and 1998, Wolters Kluwer acquired Thomson Science (owner ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Megalocephaly
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population. A mutation in the PI3K-AKT pathway is believed to be the primary cause of brain proliferation and ultimately the root cause of megalencephaly. This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH). Megalencephaly is usually diagnosed at birth and is confirmed with an MRI. There are several neuropsychiatric disorders linked with megalencephaly; however, studies have shown that autism is the most prevalent association with the malformation of MEG. Alt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micromelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.(2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. Types Dysmelia can refer to * missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * too many limbs: polymelia, polydactyly, polysyndactyly * others: tetraamelia, hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 1 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to |
