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L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
[2]: 118 The rash may also be one of the potentially lethal severe cutaneous adverse reactions, the DRESS syndrome, Stevens–Johnson syndrome, or toxic epidermal necrolysis. [ 3 ] [ 4 ] Systemic manifestations occur at the time of skin manifestations and include a high number of eosinophils in the blood , liver inflammation , and interstitial ...
An elevated MSAFP measured at 16–18 weeks gestation is a good predictor of open neural tube defects, however the test has a very high false positive rate, (2% of all women tested in Ontario, Canada between 1993 and 2000 tested positive without having an open neural tube defect, although 5% is the commonly quoted result worldwide) and only a ...
Developmental disorders including neural-tube defects, arachnoid cysts, Dandy–Walker syndrome, and Arnold–Chiari malformation can also cause primary hydrocephalus. About 80–90% of fetuses or newborn infants with the neural-tube defect spina bifida —often associated with meningocele or myelomeningocele —develop hydrocephalus.
[5] [11] DWM is the cause of around 4.3% of cases of congenital hydrocephalus [14] and 2.5% of all cases of hydrocephalus. [ 6 ] A 2017 review found that most patients (65%) were diagnosed with either "Dandy–Walker malformation" or "Dandy–Walker syndrome", while 20% were diagnosed with "Dandy–Walker variant" and 1.1% with "mega cisterna ...
The International Statistical Classification of Diseases and Related Health Problems (ICD), maintained by the World Health Organization, is a medical coding system used for medical billing and statistical purposes – not for deciding whether any person is sick, or whether any collection of symptoms constitutes a single disease. However, this ...
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. It is named from its appearance under a microscope.