macrocephaly sentence in Hindi
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- A 2008 study concluded that Peek probably had FG syndrome, a rare genetic syndrome linked to the X chromosome which causes physical anomalies such as hypotonia ( low muscle tone ) and macrocephaly ( abnormally large head ).
- Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly, lipomatosis, nevi, asymmetric overgrowth of various body parts, adipose tissue dysregulation, cystadenomas, adenomas, vascular malformation.
- First reported by Opitz and Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia ( low muscle tone ), and a characteristic facial appearance including macrocephaly ( an abnormally large head ).
- Severe hydrocephalus causing macrocephaly, a larger than average head circumference, can easily be managed by placement of a shunt and often displays a misdiagnosis of another lesser variation of cephalic condition due to the blanketing nature of hydrocephalus.
- At one end of the genetic spectrum, duplications of chromosomes have been found to be related to autism and macrocephaly; at the other end, deletions of chromosomes have been found to be related to schizophrenia and microcephaly.
- Evidence that Bunyamwera serogroup viruses in North America are associated with congenital defects such as macrocephaly and / or microcephaly in humans suggests the possibility that Tensaw virus and other viruses of the family Bunyaviridae may have teratogenic potential in humans.
- Mutations in CHD8 could lead to upregulation of ?-catenin-regulated genes, in some part of the brain this upregulation can cause brain overgrowth also known as macrocephaly, which occurs in 15-35 % of autistic children.
- By means of exome sequencing, two variants-P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, a 3 year old male with neurodevelopmental disorder, episodes of psychomotor regression, history of macrocephaly and history of torticollis.
- Cohen and Tibbles said that Merrick showed the following signs of Proteus syndrome : " macrocephaly; hyperostosis of the large skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses ."
- In their article, Bendersky and Ms . Tate say that some of the small figures show congenital deformities, including an undersize jaw or lack of a jaw altogether, conditions called micronathia and agnathia, or a disproportionate enlargement of the head, macrocephaly, which may have led to premature birth and death.
- Environmental events associated with macrocephaly include infection, neonatal intraventricular hemorrhage ( bleeding within the infant brain ), subdural hematoma ( bleeding beneath the outer lining of the brain ), subdural effusion ( collection of fluid beneath the outer lining of the brain ), and arachnoid cysts ( cysts on the brain surface ).
- The D2 form is rare, with symptoms including macrocephaly, cardiomyopathy, mental retardation, hypotonia, and cortical blindness . It is caused by recessive mutations in " D2HGDH " ( type I ) or by dominant gain-of-function mutations in " IDH2 " ( type II ).
- Loss-of-function " CUL4B " mutation events have been discovered in numerous patients with, which is characterized by aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus and tremor . " CUL4B " mutations have also been associated with malformations of cortical development.
- Kim Peek was born with macrocephaly, damage to the cerebellum, and, most importantly, agenesis of the corpus callosum, a condition in which the bundle of nerves that connects the two hemispheres of the brain is missing; in Peek's case, secondary connectors such as the anterior commissure are also missing.
- "' Minor physical anomalies "'( "'MPA "'s ) are relatively minor ( typically painless and, in themselves, harmless ) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
- They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles, hollow cheeks ( malar hypoplasia ), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption, abnormal hair pattern ( hypotrichosis ), beaked nose, mild to severe mental retardation and dysmorphism.
- Axillary freckling also occurs in other disease processes that closely resemble NF1, such as Legius syndrome ( cafe-au-lait spots, axillary freckling, and macrocephaly without Lisch nodules, neurofibromas or CNS tumors ), and, homozygous HNPCC mutations ( cafe-au-lait spots, axillary freckling, and cutaneous neurofibromas in the setting of Hereditary Non-Polyposis Colon Cancer, also known as Lynch syndrome; seen with family history of HNPCC and consanguinity)
- FG syndrome's major clinical features include intellectual disability, usually severe; hyperactive behavior, often with an outgoing personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, " open-mouthed " expression, a thin upper lip, a full or pouting lower lip, and partial or complete loss of the corpus callosum.
- Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation ( naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition ), body asymmetry ( also called hemihyperplasia or hemihypertrophy ), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
- The cranial dysmorphisms associated with 3C syndrome are heterogeneous and include a degree of macrocephaly, a large anterior fontanel, a particularly prominent occiput and forehead, ocular hypertelorism ( wide-set eyes ), slanted palpebral fissures, cleft palate, a depressed nasal bridge, cleft palate with associated bifid uvula, Low-set ears are the most common cranial dysmorphism seen in 3C syndrome, and ocular coloboma is the least common of the non-concurrent symptoms ( cleft lip co-occurring with cleft palate is the least common ).
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