AI Article Synopsis
- Neuroimaging and molecular cytogenetics were utilized to determine the disability cause in a case diagnosed with a variant of Miller-Dieker syndrome (MDS).
- A prenatal scan indicated dolichocephaly, which was assessed as a physiological variant lacking prognostic value, contrasting it with similar conditions that do have significant implications.
- The results underlined the importance of early craniosynostosis identification in cases with suspected neurological disorders and highlighted key criteria for molecular testing in MDS situations.
Article Abstract
Neuroimaging and molecular cytogenetics were used to ascertain the cause of disability in a case. The case was diagnosed to be a variant of Miller-Dieker syndrome (MDS). Retrospective analysis showed a prenatal scan reporting dolichocephaly. We evaluated dolichocephaly, the name associated with a nonsynostotic cause to be a physiological variant having no prognostic value, to that of a similar synostotic or secondary to a neurological disorder cause, with prognostic significance. The report confirmed early craniosynostosis in cases suspected with a neurological disorder and also on an important criterion in molecular testing strategy in cases suspected with MDS.
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| http://dx.doi.org/10.3109/15513815.2012.754529 | DOI Listing |
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