AI Article Synopsis
- A 1-day-old boy was diagnosed with classical lissencephaly grade 1, which is a brain development disorder.
- The boy exhibits an extended phenotype with characteristics like dolichocephaly (long skull shape) and defects in hair and nails.
- This case may indicate a newly identified condition since previous instances of lissencephaly didn’t show these additional features.
Article Abstract
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.
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| http://dx.doi.org/10.1016/j.braindev.2005.10.011 | DOI Listing |
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