Search results
Results From The WOW.Com Content Network
Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]
Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. [2] Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development.
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder.
The human CASK gene was first described as a candidate locus for X-linked optic atrophy in 1998. [20] The first patient was described in literature in 2007 [ 21 ] and an association between a CASK gene mutation and MICPCH confirmed in 2008.
Even if you had to go through it, your child can survive. Your child can live a good-quality life," he told Redbookmag.com . Jaxon's parents discovered something was wrong with Jaxon at his 17 ...
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]
Colpocephaly is a cephalic disorder involving the disproportionate enlargement of the occipital horns of the lateral ventricles and is usually diagnosed early after birth due to seizures. It is a nonspecific finding and is associated with multiple neurological syndromes , including agenesis of the corpus callosum , Chiari malformation ...
She had two children, Liv and Dag, who had been normal at birth but subsequently developed intellectual disability. When Dag was about a year old, the mother noticed a strong smell to his urine. Følling obtained urine samples from the children and, after many tests, he found that the substance causing the odor in the urine was phenylpyruvic acid.