Further comments on the lissencephaly syndromes.
Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D009929:Organ Size; D012306:Risk; D013577:Syndrome