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The symptoms in Chiari malformation type I (CM-I) have different presentations, and depends on certain malformation components.
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High-flow vascular malformations have arterial components and include arteriovenous malformations and arteriovenous fistulas.
The low-flow malformations do not have arterial components and include venous, lymphatic, and mixed malformations [5, 10, 11].
Additionally, TSHZ1-deficient mice show malformations in the middle ear components [ 28].
Future studies should further investigate the relations between the different components of the complex malformation in RLD and hand function, especially in the long-term.
Hydrocephalus is also a component of the congenital malformation syndrome Goldenhar Syndrome.
The crucial role of this pathway in cell differentiation and proliferation is well established, and mutations in its components lead to severe malformations in developing embryos and cancer in adults [ 5].
These epidemiological studies raised the possibility of an association between birth defects and exposure to DU. Hydrocephalus is also a component of a congenital malformation syndrome, Goldenhar syndrome, which was reported among infants born to Gulf Wars veterans [ 30].
This procedure had to be adopted in order to calculate mixture-effect predictions for genital malformations, because two of the mixture components, DEHP and prochloraz, were without observable effects on their own [see Supplemental Material, Tables 1 and 3 (doi:10.1289/ehp.0900689.S1)].
Given the critical importance of the sight organ, it is not surprising that alterations or malformations of any ocular component may result in several clinical phenotypes, ranging from conjunctivitis to Cataract until the severe vision loss and the irreversible blindness.
(Most clinicians and researchers would not consider this patient to have classic VACTERL association, as he did not have at least three component features, but he met the criteria for inclusion in our study based on the presence of two component features and an additional congenital malformation (Solomon et al., 2010a).
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