Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria

Jun ichi Takanashi; A. James Barkovich; Nancy J. Clegg; Mauricio R. Delgado

Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria

Jun ichi Takanashi, A. James Barkovich, Nancy J. Clegg, Mauricio R. Delgado

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	394-397
Number of pages	4
Journal	American Journal of Neuroradiology
Volume	24
Issue number	3
State	Published - Mar 1 2003

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging
Clinical Neurology

Cite this

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abstract = "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.",

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AU - Barkovich, A. James

AU - Clegg, Nancy J.

AU - Delgado, Mauricio R.

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N2 - 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.

AB - 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.

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JF - American Journal of Neuroradiology

IS - 3

ER -

Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria

Abstract

ASJC Scopus subject areas

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