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 ).
32.
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 ).
33.
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.
34.
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.
35.
"' 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.
36.
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.
37.
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)
38.
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.
39.
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.
40.
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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