A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly

Report of a case and review of literature

Shubha Phadke, K. Girisha, Rajendra Phadke

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Pachygyria is a disorder of neuronal migration. We report an Indian family with four siblings with developmental delay, infrequent seizures, normal head size and mild to moderate mental retardation. Two of them had bilaterally symmetrical frontotemporal pachygyria. Dysmorphism and neurological signs were absent in the affected subjects. Affected male and female siblings with normal parents suggests autosomal recessive mode of inheritance. We believe these cases represent a new autosomal recessive disorder of neuronal migration. Other similar cases of lissencephaly are reviewed.

Original languageEnglish
Pages (from-to)57-60
Number of pages4
JournalNeurology India
Volume55
Issue number1
Publication statusPublished - 01-01-2007

Fingerprint

Group II Malformations of Cortical Development
Lissencephaly
Microcephaly
Intellectual Disability
Seizures
Head
Frontotemporal Pachygyria

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Neuroscience(all)

Cite this

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A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly : Report of a case and review of literature. / Phadke, Shubha; Girisha, K.; Phadke, Rajendra.

In: Neurology India, Vol. 55, No. 1, 01.01.2007, p. 57-60.

Research output: Contribution to journalArticle

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