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Literature DB >> 12637288

Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria.

Jun-Ichi Takanashi¹, A James Barkovich, Nancy J Clegg, Mauricio R Delgado.

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.

Entities: Disease Species

Mesh：

Year: 2003 PMID： 12637288 PMCID： PMC7973611

Source DB: PubMed Journal: AJNR Am J Neuroradiol ISSN： 0195-6108 Impact factor: 3.825

15 in total

1. Syndromes of bilateral symmetrical polymicrogyria.

Authors: A J Barkovich; R Hevner; R Guerrini
Journal: AJNR Am J Neuroradiol Date: 1999 Nov-Dec Impact factor: 3.825

2. The middle interhemispheric variant of holoprosencephaly.

Authors: Erin M Simon; Robert F Hevner; Joseph D Pinter; Nancy J Clegg; Mauricio Delgado; Stephen L Kinsman; Jin S Hahn; A James Barkovich
Journal: AJNR Am J Neuroradiol Date: 2002-01 Impact factor: 3.825

3. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

Authors: Xianhua Piao; Lina Basel-Vanagaite; Rachel Straussberg; P Ellen Grant; Elizabeth W Pugh; Kim Doheny; Betty Doan; Susan E Hong; Yin Yao Shugart; Christopher A Walsh
Journal: Am J Hum Genet Date: 2002-02-13 Impact factor: 11.025

4. A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Authors: Laurent Villard; Karine Nguyen; Carlos Cardoso; Christa Lese Martin; Ann M Weiss; Mara Sifry-Platt; Arthur W Grix; John M Graham; Robin M Winter; Richard J Leventer; William B Dobyns
Journal: Am J Hum Genet Date: 2002-01-29 Impact factor: 11.025

Review 5. Cell migration and cerebral cortical development.

Authors: J A Golden
Journal: Neuropathol Appl Neurobiol Date: 2001-02 Impact factor: 8.090

6. Classification system for malformations of cortical development: update 2001.

Authors: A J Barkovich; R I Kuzniecky; G D Jackson; R Guerrini; W B Dobyns
Journal: Neurology Date: 2001-12-26 Impact factor: 9.910

Review 7. Neuropathologic research strategies in holoprosencephaly.

Authors: H B Sarnat; L Flores-Sarnat
Journal: J Child Neurol Date: 2001-12 Impact factor: 1.987

8. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Authors: L Y Brown; S Odent; V David; M Blayau; C Dubourg; C Apacik; M A Delgado; B D Hall; J F Reynolds; A Sommer; D Wieczorek; S A Brown; M Muenke
Journal: Hum Mol Genet Date: 2001-04-01 Impact factor: 6.150

Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria.

1. Syndromes of bilateral symmetrical polymicrogyria.

2. The middle interhemispheric variant of holoprosencephaly.

3. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

4. A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Review 5. Cell migration and cerebral cortical development.

6. Classification system for malformations of cortical development: update 2001.

Review 7. Neuropathologic research strategies in holoprosencephaly.

8. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

9. Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus.

10. Familial schizencephaly associated with EMX2 mutation.

1. "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.

2. Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly.

3. Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

4. Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult.

5. Middle interhemispheric variant of holoprosencephaly: A rare midline malformation.