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Congenital malformations were found to be the strongest predictor of mortality.
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A range of abdominal organ malformations were found at necropsy.
Notably, among the four patients carrying two mutations in SLC26A4, one patient was found to have asymmetric hearing loss despite having bilateral Mondini malformation and two patients were found to have bilateral malformations of the semicircular canals.
In a study of 30 patients undergoing surgery for SMCP, all were found to have vomerine malformations with the most frequently observed defect being a failure in vomer fusion with the rostral part of the palatal shelves (23).
These defects were found to be similar to malformations previously reported in vitamin A deficiency studies in rats [22].
Interestingly, recessive mutations in the WDR62 were found to be involved in severe brain malformations, including microcephaly and pachygyria [ 10].
Decrease in weight gain during pregnancy as well as decreased fetal viability and increased malformations were found with exposure to 750 mg/kg/d DiHP (McKee et al., 2006).
In contrast, other renal disorders and male genital malformations are found at a low rate.
Additional malformations were found in few cases.
Furthermore, no increases in external, internal or skeletal malformations were found (Saillenfait et al., 2008a).
The results were normal; in particular, no cochlear malformations were found.
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CEO of Professional Science Editing for Scientists @ prosciediting.com