An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973611 | PMC |
Publication Analysis
Top Keywords
middle interhemispheric
8
variant holoprosencephaly
8
diffuse polymicrogyria
8
interhemispheric variant
4
holoprosencephaly associated
4
associated diffuse
4
polymicrogyria 11-month-old
4
11-month-old boy
4
boy discovered
4
discovered cleft
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!