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Trigonocephaly
Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from the Greek , "forehead"), leading to a triangular forehead. The merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur syndromic, involving other abnormalities, or isolated. The term is from the Greek , "triangle", and , "head". Cause Trigonocephaly can either occur syndromatic or isolated. Trigonocephaly is associated with the following syndromes: Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. Trigonocephaly is probably a multifactorial congenital condition, but due to limited proof of these theories this cannot safely be concluded. Intrinsic bone malformation The first theory assumes that the origin of pathological synostosis lies within disturbed bone formation early on in the preg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Say–Meyer Syndrome
Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state. It is suggested that it is from a X-linked transmission. Signs and symptoms Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include * Intellectual disability. * Low-set ears/posteriorly rotated ears * Intellectual deficit as well as learning disabilit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jacobsen Syndrome
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA base pairs. The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be. People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Signs and symptoms Almost all children with Jacobsen syndr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metopic Suture
The frontal suture is a fibrous joint that divides the two halves of the frontal bone of the skull in infants and children. Typically, it completely fuses between three and nine months of age, with the two halves of the frontal bone being fused together. It is also called the metopic suture, although this term may also refer specifically to a ''persistent frontal suture''. If the suture is not present at birth because both frontal bones have fused (craniosynostosis), it will cause a keel-shaped deformity of the skull called trigonocephaly. Its presence in a fetal skull, along with other cranial sutures and fontanelles, provides a malleability to the skull that can facilitate movement of the head through the cervical canal and vagina during delivery. The dense connective tissue found between the frontal bones is replaced with bone tissue as the child grows older. Persistent frontal suture In some individuals, the suture can persist (totally or partly) into adulthood, and is refe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Valproate
Valproate (VPA) and its valproic acid, sodium valproate, and valproate semisodium forms are medications primarily used to treat epilepsy and bipolar disorder and prevent migraine headaches. They are useful for the prevention of seizures in those with absence seizures, partial seizures, and generalized seizures. They can be given intravenously or by mouth, and the tablet forms exist in both long- and short-acting formulations. Common side effects of valproate include nausea, vomiting, somnolence, and dry mouth. Serious side effects can include liver failure, and regular monitoring of liver function tests is therefore recommended. Other serious risks include pancreatitis and an increased suicide risk. Valproate is known to cause serious abnormalities in fetuses if taken during pregnancy, and is contra-indicated for women of childbearing age unless the drug is essential to their medical condition. As of 2022 the drug was still prescribed in the UK to potentially pregnant wo ... [...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 aplasia, but less severe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Röntgenography
Radiology ( ) is the medical discipline that uses medical imaging to diagnose diseases and guide their treatment, within the bodies of humans and other animals. It began with radiography (which is why its name has a root referring to radiation), but today it includes all imaging modalities, including those that use no electromagnetic radiation (such as ultrasonography and magnetic resonance imaging), as well as others that do, such as computed tomography (CT), fluoroscopy, and nuclear medicine including positron emission tomography (PET). Interventional radiology is the performance of usually minimally invasive medical procedures with the guidance of imaging technologies such as those mentioned above. The modern practice of radiology involves several different healthcare professions working as a team. The radiologist is a medical doctor who has completed the appropriate post-graduate training and interprets medical images, communicates these findings to other physicians by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthal Folds
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] |
Hypotelorism
Hypotelorism is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eye sockets (orbits), also known as orbital hypotelorism. Causes It is often a result of fetal alcohol syndrome (FAS), caused by large alcohol intake in the first month of pregnancy. It can be associated with trisomy 13, which is also known as Patau syndrome, as well as hereditary neuralgic amyotrophy.Electromyography and Neuromuscular Disorders, Second Edition. Preston and Shapiro. It can also be associated with fragile X syndrome and Prader–Willi syndrome Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become .... Metopic synostosis, the early closure of metopic suture during skull development in children, can also cause hypotelorism. See also * Hypertelorism Refere ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
