Syndromes with lissencephaly. II. Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

W. B. Dobyns, J. B. Kirkpatrick, H. M. Hittner, R. M. Roberts, F. L. Kretzer

Research output: Contribution to journalReview articlepeer-review

118 Scopus citations

Abstract

Lissencephaly (smooth brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least two distinct pathological types occur, each associated with several recognized syndromes. In this paper, we report on the clinical and pathologic manifestations of four additional patients and classify and delineate three separate disorders with type II lissencephaly. We also report on a previously undescribed abnormality in one of the four patients - dilated rough endoplasmic reticulum cisternae containing an unknown osmiophilic secretory product, probably a glycoprotein.

Original languageEnglish (US)
Pages (from-to)157-195
Number of pages39
JournalAmerican Journal of Medical Genetics
Volume22
Issue number1
DOIs
StatePublished - 1985
Externally publishedYes

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