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Bulging Eyes
Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma. Exophthalmos has endocrine causes. In the case of Graves' disease, the displacement of the eye results from abnormal connective tissue deposition in the orbit and extraocular muscles, which can be visualized by CT or MRI. If left untreated, exophthalmos can cause the eyelids to fail to close during sleep, leading to corneal dryness and damage. Another possible complication is a form of redness or irritation called superior limbic keratoconjunctivitis, in which the area above the cornea becomes inflamed as a result of increased friction when blinking. The process that is causing the displ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exophthalmus
''Exophthalmus'' is a genus of broad-nosed weevils in the family Curculionidae. It contains 85 described species. Taxonomy ''Exophthalmus'' was named for the first time by Carl Johan Schönherr in 1823 (column 1140). It belongs in the tribe Eustylini. In revising the Jamaican species, Vaurie offers an overview to the genus and its taxonomic conflicts. A preliminary phylogeny for ''Exophthalmus'' and its allies was presented by Franz. It is part of the so-called ''"Exophthalmus'' genus complex" which involves members of the genera '' Diaprepes'', '' Compsus'', ''Lachnopus'', among others. Based on morphological and molecular evidence, it has been proposed that the genus needs to be reclassified to better reflect the actual distribution of natural clades. Description In general, ''Exophthalmus'' species are characterized by the smooth and broad longitudinal bridge running longitudinally across the rostrum. There is a lot of variation in sizes, density, coloration, and patt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Malignant Osteopetrosis
Malignant infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis (excessive growth of bone). The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices.EL-Sobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF (2016)"A case of infantile osteopetrosis: The radioclinical features with literature update' ''Bone Rep''. 4:11-16doi:10.1016/j.bonr.2015.11.002 Obliteration of bone marrow spaces and subsequent depression of the cellular function can result in serious hematologic complications. Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely poor in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes , since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Robinow Syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external sex organ, genitalia, and vertebrae, vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the ''American Journal of Diseases of Children''. By 2002, over 100 cases had been documented and introduced into medical literature. Two forms of the disorder exist, dominant gene, dominant and recessive gene, recessive, of which the former is more common. Patients with the dominant version often suffer moderately from the aforementioned symptoms. Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeleton, skeletal abnormalities.Robinow Syndrome Foundation. General Information'. Accessed 19 May 2006. The recessive form is particularly frequent in Turkey. However, this can likely be expl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Intellectual Disability-craniofacial Anomalies-cardiac Defects Syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development. Signs and symptoms Symptoms within people with the disorder vary, but they are generally the following: Intellectual * Intellectual disabilities Developmental * Widespread developmental delays * Speech delays (which can sometimes last into adulthood) * Feeding difficulties Intestinal * Acid reflux * Chronic constipation Cardiac * Atrial septal defect * Ventricular septal defect * Patent foramen ovale * Persistent ductus arteriosus Ocular * Strabismus * Amblyopia * Refractory errors Facial * Broad nose * Thin upper lip * Bitemporal narrowing * Microcephaly Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections. Causes This condition is caused by heterozygous mutations in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
