Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
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.
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome