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Cebocephaly
Cebocephaly (from Greek ''kebos'', "monkey" + ''kephale'', "head") is a developmental anomaly that is part of a group of defects called holoprosencephaly. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no nasal septum). It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries. Signs and symptoms Cebocephaly causes: * two separate eyes set close together * a small, flat nose with a single nostril * ear abnormalities * mouth abnormalities (such as microstomia) The presence of a nasal septum precludes a diagnosis of cebocephaly. Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit. Cause Cebocephaly can be caused by many factors, particularly genetic variations. These include 18p-, 14q deletion, 13q deletion, and some verti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
18p-
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. Signs and symptoms 18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. Congenital anomalies About 10–15% of individuals with 18p- have holoprosencephaly. Approximately 10% of people with 18p- have a congenital heart anomaly. There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. Septal defects, tetralogy of Fallot, dextrocardia, and coarctation of the aorta have all been reported in infants with 18p-. Neurologic Hypotonia is frequently seen in the 18p- population. Seizures, though uncommon, have been reported in people with 18p-. Dystonia has also been diagnosed in a small minority of young adults with 18p-. Als ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sphenoid Bone
The sphenoid bone is an unpaired bone of the neurocranium. It is situated in the middle of the skull towards the front, in front of the basilar part of occipital bone, basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit (anatomy), orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended. Structure It is divided into the following parts: * a median portion, known as the body of sphenoid bone, containing the sella turcica, which houses the pituitary gland as well as the paired paranasal sinuses, the sphenoidal sinuses * two Greater wing of sphenoid bone, greater wings on the lateral side of the body and two Lesser wing of sphenoid bone, lesser wings from the anterior side. * Pterygoid processes of the sphenoides, directed downwards from the junction of the body and the greater wings. Two sphenoidal conchae are situated at the anterior and inferior part of the body. Intrinsic ligaments of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Medical Genetics
The ''Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on the latest developments. It was established in 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Abstracting and indexing The journal is abstracted and indexed in the Science Citation Index, BIOSIS Previews, Index Medicus/MEDLINE, Current Contents, Scopus, Embase, and CINAHL. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 6.318. References External links * BMJ Group academic journals Monthly journals Publications established in 1964 English-language journals Medical genetics journa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
International Journal Of Pediatric Otorhinolaryngology
The ''International Journal of Pediatric Otorhinolaryngology'' is a peer-reviewed medical journal covering pediatrics and otorhinolaryngology. It was established in 1979 and is published 15 times per year by Elsevier. The founding and current editor-in-chief is Robert J. Ruben (Albert Einstein College of Medicine). According to the ''Journal Citation Reports'', the journal has a 2015 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 1.125. References External links * Elsevier academic journals Otorhinolaryngology journals Pediatrics journals Publications established in 1979 English-language journals Journals published between 13 and 25 times per year {{otorhinolaryngology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertically Transmitted Infection
A vertically transmitted infection is an infection caused by pathogenic bacteria or Pathogenic virus, viruses that use mother-to-child transmission, that is, Transmission (medicine), transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can occur when the mother has a pre-existing disease in pregnancy, pre-existing disease or becomes infected during pregnancy. Nutritional deficiencies may exacerbate the risks of perinatal infections. Types of infections Bacteria, viruses, and other organisms are able to be passed from mother to child. Several vertically transmitted infections are included in the TORCH complex: # T – toxoplasmosis from ''Toxoplasma gondii'' # O – other infections (see below) # R – rubella # C – cytomegalovirus # H – herpes simplex virus-2 or neonatal herpes simplex Other infections include: * Parvovirus B19 * Coxsackievirus * Chickenpox (caused by varicella zoster virus) * ''Chlamydia infection, Chlamydi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
13q Deletion Syndrome
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as: * 13q- Syndrome, Partial, * Deletion 13q Syndrome, Partial * Monosomy 13q, Partial * Partial Monosomy of the Long Arm of Chromosome 13 Signs and symptoms Variations of the signs and symptoms occur depending upon the area of chromosome 13 that is deleted. Deletions from the centromere to 13q32 or any deletions including the 13q32 band are associated with slow growth, intellectual disability, and congenital malformations. Deletions from 13q33 to the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Variation
Genetic variation is the difference in DNA among individuals or the differences between populations. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as well. Among individuals within a population Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes (e.g., leg length in dogs)) or discrete traits (traits that fall into discrete categories and are coded for by one or a few genes (e.g., white, pink, or red petal color in certain flowers)). Genetic variation can also be identified by examining variation at the level of enzymes using the process of protein electrophoresis. Polymorphic genes have more than one allele at each locus. Half of the genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orbit (anatomy)
In anatomy, the orbit is the cavity or socket of the skull in which the eye and its appendages are situated. "Orbit" can refer to the bony socket, or it can also be used to imply the contents. In the adult human, the volume of the orbit is , of which the eye occupies . The orbital contents comprise the eye, the orbital and retrobulbar fascia, extraocular muscles, cranial nerves II, III, IV, V, and VI, blood vessels, fat, the lacrimal gland with its sac and duct, the eyelids, medial and lateral palpebral ligaments, cheek ligaments, the suspensory ligament, septum, ciliary ganglion and short ciliary nerves. Structure The orbits are conical or four-sided pyramidal cavities, which open into the midline of the face and point back into the head. Each consists of a base, an apex and four walls."eye, human."Encyclopædia Britannica from Encyclopædia Britannica 2006 Ultimate Reference Suite DVD 2009 Openings There are two important foramina, or windows, two important fissu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ethmoid Bone
The ethmoid bone (; from grc, ἡθμός, hēthmós, sieve) is an unpaired bone in the skull that separates the nasal cavity from the brain. It is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that make up the orbit of the eye. Structure The ethmoid bone is an anterior cranial bone located between the eyes. It contributes to the medial wall of the orbit, the nasal cavity, and the nasal septum. The ethmoid has three parts: cribriform plate, ethmoidal labyrinth, and perpendicular plate. The cribriform plate forms the roof of the nasal cavity and also contributes to formation of the anterior cranial fossa, the ethmoidal labyrinth consists of a large mass on either side of the perpendicular plate, and the perpendicular plate forms the superior two-thirds of the nasal septum. Between the orbital plate and the nasal conchae are the ethmoidal sinuses or ethmoidal air cells, w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microstomia
Microstomia is a small mouth (''micro-'' a combining form meaning small + ''-stomia'' a combining form meaning mouth = (abnormally) "small mouth" in Greek.) Congenital It is a feature of many craniofacial syndromes, including Freeman–Sheldon syndrome and Sheldon-Hall syndromes (or distal arthrogryposis multiplex congenita). It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome. In this syndrome, it impairs alimentation and may require repeated oral surgeries (called commissurotomy) to improve function. Acquired Microstomia can occur as a result of scarring due to many conditions. It is seen as complication of facial burns. It can also be a feature of systemic scleroderma Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are two m .... References Exter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertically Transmitted Infections
A vertically transmitted infection is an infection caused by pathogenic bacteria or viruses that use mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can occur when the mother has a pre-existing disease or becomes infected during pregnancy. Nutritional deficiencies may exacerbate the risks of perinatal infections. Types of infections Bacteria, viruses, and other organisms are able to be passed from mother to child. Several vertically transmitted infections are included in the TORCH complex: # T – toxoplasmosis from ''Toxoplasma gondii'' # O – other infections (see below) # R – rubella # C – cytomegalovirus # H – herpes simplex virus-2 or neonatal herpes simplex Other infections include: * Parvovirus B19 * Coxsackievirus * Chickenpox (caused by varicella zoster virus) * ''Chlamydia'' * HIV * Human T-lymphotropic virus * Syphilis * Zika fever, caused by Zika virus, can cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Journal Of Diseases Of Children
''JAMA Pediatrics'' is a monthly peer-reviewed medical journal published by the American Medical Association. It covers all aspects of pediatrics. The journal was established in 1911 as the ''American Journal of Diseases of Children'' and renamed in 1994 to ''Archives of Pediatrics & Adolescent Medicine'', before obtaining its current title in 2013. The journal's founding editor-in-chief in 1911 was Abraham Jacobi. The articles in that first volume of the journal were mostly observational studies focused on the major causes of illness and death in children at the start of the 20th century. The current editor-in-chief is Dimitri A. Christakis (University of Washington). According to ''Journal Citation Reports'', the journal's 2021 impact factor is 26.796, ranking it 2nd out of 130 journals in the category "Pediatrics". Naming history Abstracting and indexing The journal is abstracted and indexed in Index Medicus/MEDLINE/PubMed. See also *List of American Medical Associatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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