National Down Syndrome SocietyMalformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Prenatal diagnosis: Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.Trisomy 9National Cholesterol Education Program: The National Cholesterol Education Program is a program managed by the National Heart, Lung and Blood Institute, a division of the National Institutes of Health. Its goal is to reduce increased cardiovascular disease rates due to hypercholesterolemia (elevated cholesterol levels) in the United States of America.EstriolPrenatal nutrition: Nutrition and weight management before and during :pregnancy has a profound effect on the development of infants. This is a rather critical time for healthy fetal development as infants rely heavily on maternal stores and nutrient for optimal growth and health outcome later in life.Congenital nephrotic syndromeHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.William Lakin Turner: William Lakin Turner (25 February 1867 – 21 October 1936) was an English landscape artist.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Alpha-fetoprotein: Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein that in humans is encoded by the AFP gene. The AFP gene is located on the q arm of chromosome 4 (4q25).Nasal fractureAustin B. Williams: Austin Beatty Williams (October 17, 1919 – October 27, 1999) was an American carcinologist, "the acknowledged expert on and leader in studies of the systematics of eastern American decapod crustaceans".}}Refractory cytopenia with multilineage dysplasiaCushing reflex: Cushing reflex (also referred to as the vasopressor response, the Cushing effect, the Cushing reaction, the Cushing phenomenon, the Cushing response, or Cushing's Law) is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing's triad of increased blood pressure, irregular breathing, and a reduction of the heart rate. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation.Prevalence: Prevalence in epidemiology is the proportion of a population found to have a condition (typically a disease or a risk factor such as smoking or seat-belt use). It is arrived at by comparing the number of people found to have the condition with the total number of people studied, and is usually expressed as a fraction, as a percentage or as the number of cases per 10,000 or 100,000 people.Congenital heart defectGross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Paternal age effect: The paternal age effect is the statistical relationship between paternal age at conception and biological effects on the child. Such effects can relate to birthweight, congenital disorders, life expectancy, and psychological outcomes.Haemodynamic response: In haemodynamics, the body must respond to physical activities, external temperature, and other factors by homeostatically adjusting its blood flow to deliver nutrients such as oxygen and glucose to stressed tissues and allow them to function. Haemodynamic response (HR) allows the rapid delivery of blood to active neuronal tissues.Infertility in polycystic ovary syndrome: Polycystic ovary disease (PCOS) is a hormonal imbalance in women that is thought to be one of the leading causes of female infertility.Palacio JR et,al.Nested case-control study: A nested case control (NCC) study is a variation of a case-control study in which only a subset of controls from the cohort are compared to the incident cases. In a case-cohort study, all incident cases in the cohort are compared to a random subset of participants who do not develop the disease of interest.Thymus transplantationNicholas Horner: Nicholas Horner (died 4 March 1590) was an English Roman Catholic layman, hanged, drawn and quartered because he had relieved and assisted Christopher Bales, a seminary priest. He is a Catholic martyr, beatified in 1987.Frontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Prader–Willi syndromeShort QT syndromeFamily aggregation: Family aggregation, also known as familial aggregation, is the clustering of certain traits, behaviors, or disorders within a given family. Family aggregation may arise because of genetic or environmental similarities.Atrioventricular septal defectQRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.Georges Guillain: Georges Charles Guillain () (3 March 1876 - 29 June 1961) was a French neurologist born in Rouen.Hemolytic-uremic syndromeAlzheimer's Disease Neuroimaging Initiative: Alzheimer’s Disease Neuroimaging Initiative (ADNI) is a worldwide project that provides reliable clinical data for the research of pathology principle, prevention and treatment of Alzheimer’s disease (AD). Multiple research groups contribute their findings of the biological markers to the understanding of the progression of Alzheimer’s disease in the human brain.Macropædia: The 17-volume Macropædia is the third part of the Encyclopædia Britannica; the other two parts are the 12-volume Micropædia and the 1-volume Propædia. The name Macropædia is a neologism coined by Mortimer J.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Abdominal compartment syndrome: (non-traumatic); (traumatic)Tic Talk: Living with Tourette Syndrome: Tic Talk: Living with Tourette Syndrome is a book written by Dylan Peters, a 9-year-old boy with Tourette syndrome (TS). In this personal narrative, Peters gives a timeline of events from his TS diagnosis to when he tells his friends and classmates he has TS.Biomarkers of aging: Biomarkers of aging are biomarkers that better predict functional capacity at a later age than chronological age. Stated another way, biomarkers of aging would give the true "biological age", which may be different from the chronological age.Equine chorionic gonadotropin: Equine chorionic gonadotropin (eCG) is a gonadotropic hormone produced in the chorion of pregnant mares. Most commonly called pregnant mare's serum gonadotropin (PMSG) in the past, the hormone is commonly used in concert with progestogen to induce ovulation in livestock prior to artificial insemination.Antiphospholipid syndrome: (ILDS D68.810)Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Confined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.Gestational age: Gestational age (or menstrual age) is a measure of the age of a pregnancy where the origin is the woman's last normal menstrual period (LMP), or the corresponding age as estimated by other methods. Such methods include adding 14 days to a known duration since fertilization (as is possible in in vitro fertilization), or by obstetric ultrasonography.Polysomy: Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e.
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