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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 ...
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum.It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted.
Cephalic disorders (from Greek κεφαλή 'head') are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.. Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions, nutritional deficiencies, or by environmental exposures during pregnancy, such as medication taken by the ...
Pachygyria (from Greek pachy 'thick, fat' gyri) is a congenital malformation of the cerebral hemisphere.It results in unusually thick convolutions of the cerebral cortex. ...
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking.
Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation.
That day, in August 2013, Patrick got in the car and put the duffel bag on a seat. Inside was a talisman he’d been given by the treatment facility: a hardcover fourth edition of the Alcoholics Anonymous bible known as “The Big Book.”
What follows is a list of all cases of Chudley–Mccullough syndrome recorded in medical literature. [5]1997: Chudley et al. discovers the disorder by publishing the first case of the syndrome; they describe a brother and a sister born to second-cousin Canadian-Mennonite parents, both of the siblings showed hydrocephalus (caused by obstruction of the foramen of Monro and severe bilateral ...