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Coffin-Siris Syndrome: Neuropathologic Findings

Coffin-Siris Syndrome: Neuropathologic Findings Abstract • We studied the neuropathologic features of a patient with Coffin-Siris syndrome. Two previously reported cases showed Dandy-Walker (D-W) mlaformations. 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. References 1. Coffin GS, Siris E: Mental retardation with absent fifth fingernail and terminal phalanx . AJDC 1970;119:433-439. 2. Carey JC, Hall BD: The Coffin-Siris syndrome . AJDC 1978;132:667-671. 3. Tunnessen WW, McMillan JA, Levin MB: The Coffin-Siris syndrome . AJDC 1978;132:393-395. 4. Bartsocas CS, Tsiantos AK: Mental retardation with absent fifth fingernail and terminal phalanx . AJDC 1970;120:493-494. 5. Weiswasser WH, Hall BD, Delavan GW, et al: Coffin-Siris syndrome . AJDC 1973;125:838-840. 6. Schinzel A: The Coffin-Siris syndrome . Acta Paediatr Scand 1979;68:449-452.Crossref 7. Ueda K, Saito A, Nakano H, et al: The Coffin-Siris syndrome: A case report . Helv Paediatr Acta 1980;35:385-390. 8. Mattai JF, Laframboise R, Rouault F, et al: Brief clinical report: Coffin-Lowry syndrome in sibs . Am J Med Genet 1981;8:315-319.Crossref 9. Coffin GS, Siris E, Wegienka LC: Mental retardation with osteocartilaginous anomalies . AJDC 1966;112:205-213. 10. Lowry B, Miller JR, Fraser C: A new dominant gene mental retardation syndrome . AJDC 1971;121:496-500. 11. Temtamy SA, Miller JD, Hussels-Maumenee J: The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome . J Pediatr 1975;86:724-731.Crossref 12. Dandy WE, Blackfan KD: Internal hydrocephalus: An experimental, clinical and pathological study . AJDC 1914;8:406-482. 13. Benda CE: The Dandy-Walker syndrome or the so-called atresia of the foramen of Magendie . J Neuropathol Exp Neurol 1954;13:14-29. 14. Hart MN, Malamud N, Ellis WG: The Dandy-Walker syndrome: A clinicopathological study based on 28 cases . Neurology 1972;22:771-780.Crossref 15. Brodal A, Hauglie-Hanssen E: Congenital hydrocephalus with defective development of the cerebellar vermis (Dandy-Walker syndrome) . J Neurol Neurosurg Psychiatry 1959;22:99-108.Crossref 16. Ellenberger C, Hanaway J, Netsky MG: Embryogenesis of the inferior olivary nucleus in the rat: A radioautographic study and a reevaluation of the rhombic lip . J Comp Neurol 1969;137:71-88.Crossref 17. Sidman RL, Rakic P: Neuronal migration with special reference to developing human brain: A review . Brain Res 1973;62:1-35.Crossref 18. Rakic P, Sidman RL: Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans . J Comp Neurol 1970;139:473-500.Crossref 19. Zecevic N, Rakic P: Differentiation of Purkinje cells and their relationship to other components of developing cerebellar cortex in man . J Comp Neurol 1976;167:27-48.Crossref 20. Essick CR: The development of the nucleus pontus and the nucleus arcuatus in man . Am J Anat 1912;13:25-54.Crossref 21. Hanaway J, Netsky MG: Heterotopias of the inferior olive: Relation to Dandy-Walker malformation and correlation with experimental data . J Neuropathol Exp Neurol 1971;30:380-389.Crossref 22. Friede RL: Dating and development of the human cerebellum . Acta Neuropathol 1973;23:48-58.Crossref 23. Jellinger K: Persistent matrix cell nests in human cerebellar nuclei . Neuropaediatrie 1974;5:28-33.Crossref 24. Sawaya R, McLaurin RL: Dandy-Walker syndrome: Clinical analysis of 23 cases . J Neurosurg 1981;55:89-98.Crossref 25. Rakic P, Yakovlev PI: Development of corpus callosum and cavum septi in man . J Comp Neurol 1968;132:45-72.Crossref 26. Rakic P: Embryonic development of the pulvinar-LP complex in man , in Cooper LS, Riklan M, Rakic P (eds): The Pulvinar-LP Complex . Springfield, Ill, Charles C Thomas Publisher, 1974, pp 3-25. 27. Rakic P: The development of visual centers in the primate brain depends on binocular competition before birth . Science 1981;214:928-931.Crossref 28. Chan-Palay V: Cerebellar Dentate Nucleus . New York, Springer Publishing Co Inc, 1977, pp 464-478. 29. Sumi SM: Brain malformation in the trisomy 18 syndrome . Brain 1970;93:821-830.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Coffin-Siris Syndrome: Neuropathologic Findings

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References (29)

Publisher
American Medical Association
Copyright
Copyright © 1985 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1985.04060040060012
Publisher site
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Abstract

Abstract • We studied the neuropathologic features of a patient with Coffin-Siris syndrome. Two previously reported cases showed Dandy-Walker (D-W) mlaformations. 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. References 1. Coffin GS, Siris E: Mental retardation with absent fifth fingernail and terminal phalanx . AJDC 1970;119:433-439. 2. Carey JC, Hall BD: The Coffin-Siris syndrome . AJDC 1978;132:667-671. 3. Tunnessen WW, McMillan JA, Levin MB: The Coffin-Siris syndrome . AJDC 1978;132:393-395. 4. Bartsocas CS, Tsiantos AK: Mental retardation with absent fifth fingernail and terminal phalanx . AJDC 1970;120:493-494. 5. Weiswasser WH, Hall BD, Delavan GW, et al: Coffin-Siris syndrome . AJDC 1973;125:838-840. 6. Schinzel A: The Coffin-Siris syndrome . Acta Paediatr Scand 1979;68:449-452.Crossref 7. Ueda K, Saito A, Nakano H, et al: The Coffin-Siris syndrome: A case report . Helv Paediatr Acta 1980;35:385-390. 8. Mattai JF, Laframboise R, Rouault F, et al: Brief clinical report: Coffin-Lowry syndrome in sibs . Am J Med Genet 1981;8:315-319.Crossref 9. Coffin GS, Siris E, Wegienka LC: Mental retardation with osteocartilaginous anomalies . AJDC 1966;112:205-213. 10. Lowry B, Miller JR, Fraser C: A new dominant gene mental retardation syndrome . AJDC 1971;121:496-500. 11. Temtamy SA, Miller JD, Hussels-Maumenee J: The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome . J Pediatr 1975;86:724-731.Crossref 12. Dandy WE, Blackfan KD: Internal hydrocephalus: An experimental, clinical and pathological study . AJDC 1914;8:406-482. 13. Benda CE: The Dandy-Walker syndrome or the so-called atresia of the foramen of Magendie . J Neuropathol Exp Neurol 1954;13:14-29. 14. Hart MN, Malamud N, Ellis WG: The Dandy-Walker syndrome: A clinicopathological study based on 28 cases . Neurology 1972;22:771-780.Crossref 15. Brodal A, Hauglie-Hanssen E: Congenital hydrocephalus with defective development of the cerebellar vermis (Dandy-Walker syndrome) . J Neurol Neurosurg Psychiatry 1959;22:99-108.Crossref 16. Ellenberger C, Hanaway J, Netsky MG: Embryogenesis of the inferior olivary nucleus in the rat: A radioautographic study and a reevaluation of the rhombic lip . J Comp Neurol 1969;137:71-88.Crossref 17. Sidman RL, Rakic P: Neuronal migration with special reference to developing human brain: A review . Brain Res 1973;62:1-35.Crossref 18. Rakic P, Sidman RL: Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans . J Comp Neurol 1970;139:473-500.Crossref 19. Zecevic N, Rakic P: Differentiation of Purkinje cells and their relationship to other components of developing cerebellar cortex in man . J Comp Neurol 1976;167:27-48.Crossref 20. Essick CR: The development of the nucleus pontus and the nucleus arcuatus in man . Am J Anat 1912;13:25-54.Crossref 21. Hanaway J, Netsky MG: Heterotopias of the inferior olive: Relation to Dandy-Walker malformation and correlation with experimental data . J Neuropathol Exp Neurol 1971;30:380-389.Crossref 22. Friede RL: Dating and development of the human cerebellum . Acta Neuropathol 1973;23:48-58.Crossref 23. Jellinger K: Persistent matrix cell nests in human cerebellar nuclei . Neuropaediatrie 1974;5:28-33.Crossref 24. Sawaya R, McLaurin RL: Dandy-Walker syndrome: Clinical analysis of 23 cases . J Neurosurg 1981;55:89-98.Crossref 25. Rakic P, Yakovlev PI: Development of corpus callosum and cavum septi in man . J Comp Neurol 1968;132:45-72.Crossref 26. Rakic P: Embryonic development of the pulvinar-LP complex in man , in Cooper LS, Riklan M, Rakic P (eds): The Pulvinar-LP Complex . Springfield, Ill, Charles C Thomas Publisher, 1974, pp 3-25. 27. Rakic P: The development of visual centers in the primate brain depends on binocular competition before birth . Science 1981;214:928-931.Crossref 28. Chan-Palay V: Cerebellar Dentate Nucleus . New York, Springer Publishing Co Inc, 1977, pp 464-478. 29. Sumi SM: Brain malformation in the trisomy 18 syndrome . Brain 1970;93:821-830.Crossref

Journal

Archives of Neurology – American Medical Association

Published: Apr 1, 1985

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