Lissencephaly With Pontocerebellar Hypoplasia

Macchi G. , Bentivoglio M. : Agenesis or hypoplasia of cerebellar structures, in Vinken PJ , Bruyn GW (eds): Handbook of Clinical Neurology, vol. 30. Amsterdam, Elsevier , 1977, pp 367-393.

Macchi G. , Bentivoglio M. : Agenesis or hypoplasia of cerebellar structures, in Vinken PJ , Bruyn GW (eds): Handbook of Clinical Neurology, vol. 50. Amsterdam, Elsevier , 1987, pp 175-196.

Priestley DP : A case of complete absence of the cerebellum . Lancet 1920;1:1302.

CruveilhierJ. : Absence complète du cervelet, chez un jeune fille morte dans sa onzième année, in Cruveilhier J (ed): Anatomie Pathologique du Corps Humain, vol 1. Paris, Baillière , 1829, pp 1-2.

Combette M. : Absence complète du cervelet, des pédoncules et de la protubérance . Bull Soc Med 1831;5:148.

Ferrier D. : The Functions of the Brain. London, Smith Eller, 1876.

Anton G. , Zingerle H. : Genaue Beschreibung eines Falles von beidseitigen Kleinhirn mangel . Arch Psychiatry 1914;54:8-31.

Wang PM , Maeda Y. , Izumi T. : Association of subtotal cerebellar agenesis with organoid nevus. Brain Dev 1983;5:503-508.

Sternberg C. : Uber vollständigen Defekt des Kleinhirns. Verh Dtsch Ges Pathol 1912;15:353-359.

Rubinstein HS , Freeman W. : Cerebellar agenesis. J Nerv Ment Dis 1940;92:489-502.

Tennstedt A. : Kleinhirnaplasie beim Erwachsenen. Zentralbl Allg Pathol Pathol Anat 1965;187:301-304.

Rhodes RE , Hatten HP , Ellington KS : Walker-Warburg syndrome. AJNR Am J Neuroradiol 1992;13:123-126.

Hourihane JO , Bennett CP , Chaudhuri R. : A sibship with neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 1993;24:43-46.

Riccardi VM , Marcus ES : Congenital hydrocephalus and cerebellar agenesis . Clin Genet 1978;13:443-447.

Sener RN , Jinkins JR : Subtotal agenesis of the cerebellum in an adult. Neuroradiology 1993;35:286-287.

Sarnat HB , Alcala H. : Human cerebellar hypoplasia: A syndrome of diverse causes. Arch Neurol 1980;37:300-305.

Barth PG , Mullaert R. , Stam FC : Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev 1982;4:145-151.

Herrick MK , Strafling AM , Urich H. : Intrauterine multisystem atrophy in siblings: A new genetic syndrome? Acta Neuropathol (Berl) 1983;61:65-70.

Ledbetter SA , Kuwano A. , Dobyns WB : Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 1992; 50:182-189.

Yoshida M. , Nakamura M. : Complete absence of cerebellum with arthrogryposis multiplex congenita . Surg Neurol 1962;17:62-65.

Dobyns WB , Gilbert ET , Opitz JM : Further comments on the lissencephaly syndrome. Am J Med Genet 1985;22:197-211.

Kozlowski PB , Sher JH , Nicastri AD : Brain morphology in the Galloway syndrome . Clin Neuropathol 1989;8:85-91.

Barth PG , Vrensen GF , Uylings HB : Inherited syndromes of microcephaly, dyskinesia and pontocerebellar hypoplasia . J Neurol Sci 1990;97:25-42.

Young ID , McKeever PA , Sequier MV : Lethal olivopontocerebellar hypoplasia with dysmorphic features in sibs. J Med Genet 1992;29:733-735.

Albrecht S. , Schneider MC , Belmonth J. : Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microencephaly. Report of three siblings . Acta Neuropathol (Berl) 1993;85:394-399.