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The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex is abnormally thick. If such combination exists with a normal cortical thickness (2.5 to 3 mm [ 4 ] ), it is known as " microcephaly with simplified gyral pattern " (MSGP). [ 5 ]
One-, two-, and three-year survival rates of 60%, 26%, and 14%, respectively [2] Krabbe disease ( KD ) (also known as globoid cell leukodystrophy [ 3 ] or galactosylceramide lipidosis ) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system .
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
A mother holding her son who was born with microcephaly due to vertically transmitted infection with Zika virus. Microcephaly bu kataral anginadan so'ng ya'ni uning oqibatida asorat sifatida kelib chiquvchi ''Qudratbek kasalligi'' hisoblanib asosan oshqozonning bosh hujayrakari diffuz kataral o'tkir yallig'lanishdan keyingi holat bo'lib qonda bosh hujayralarning abnormal ishlashi natijasida ...
Survival rate is a part of survival analysis.It is the proportion of people in a study or treatment group still alive at a given period of time after diagnosis. It is a method of describing prognosis in certain disease conditions, and can be used for the assessment of standards of therapy.
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Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.