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Microcephaly generally is due to the diminished size of the largest part of the human brain, the cerebral cortex, and the condition can arise during embryonic and fetal development due to insufficient neural stem cell proliferation, impaired or premature neurogenesis, the death of neural stem cells or neurons, or a combination of these factors ...
Clinically, patients present with microcephaly and significant developmental delay. While some patients may be able to walk, others may not due to spasticity of limbs and hypotonic muscle tone, with progressive degeneration over time. Patients may also present with seizures, ranging from single febrile seizure to intractable epilepsy.
Microphthalmia is a congenital disorder in which the globe of the eye is unusually small and structurally disorganized. [2] [4] While the axis of an adult human eye has an average length of about 23.8 mm (0.94 in), a diagnosis of microphthalmia generally corresponds to an axial length below 21 mm (0.83 in) in adults.
Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion; Mental handicap; Agenesis of the corpus callosum, cerebral cysts; Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis. [8] Genetic testing can confirm diagnosis. [5]
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Lenz microphthalmia syndrome is inherited as an X-linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, or malformations of the fingers or toes.
Science Corp is working on a visual prothesis called Science Eye. A microLED film sits on the retina and moves with the eye for constant pixel-to-cell mapping.
Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. [2] Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. [2]