Coffin-Siris syndrome. Neuropathologic findings.
We studied the neuropathologic features of a patient with Coffin-Siris syndrome. Two previously reported cases showed Dandy-Walker (D-W) malformations. In the present case there was no evidence of D-W malformation; instead there were hindbrain abnormalities of inferior and medial accessory olives, large arcuate nuclei, heterotopic olivary nuclei, and heterotopic nuclei in the white matter of the cerebellum. Although the hindbrain abnormalities in this case are different from those previously reported, they all have in common an intimate developmental relationship with the same embryological areas. This study suggests that the Coffin-Siris syndrome is a neurocutaneous disorder with hindbrain abnormalities in cerebellum and brain stem.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009264:Nails, Malformed; D011149:Pons / Q000002:abnormalities / Q000473:pathology