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There were no additional malformations.
In contrast to previous case reports, this infant showed no additional malformations, which seems to be important for the prognosis.
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Situs inversus visceralis was an additional malformation.
In addition, performance of high-resolution whole genome array could be valuable, especially in case of additional malformations such as in the cardiovascular system, genito-urinal tract and central nervous system [4].
Additional malformations were found in few cases.
In some cases, additional malformations like hydrocephalus externus develop [ 2- 5].
Further diagnostic approach may include MR angiography and abdominal sonography to evaluate additional malformations.
Additional malformations i.e. cardiac defects are present in many cases.
None of the affected individuals in any of the three families had additional malformations, including foot malformations.
1 10 More than 80% of infants with ACD/MPV have additional malformations affecting the cardiac, gastrointestinal, and genitourinary systems.
Recently, STRA6 (MIM 610745) has been implicated in a malformation syndrome that includes anophthalmia, additional malformations, and developmental lung abnormalities said to be ACD.
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