Pontocerebellar hypoplasia type 3 with tetralogy of Fallot

Brain and Development

Volumn 34, Issue 5, 2012, Pages 392-395

  Jinnou, Hideo ^a   Okanishi, Tohru ^a   Enoki, Hideo ^a   Ohki, Shigeru ^a  

^a SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

Author keywords

Optic atrophy; Pontocerebellar hypoplasia; Tetralogy of Fallot

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; DEVELOPMENTAL DISORDER; FALLOT TETRALOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; MICROCEPHALY; MICROGNATHIA; MYOCLONUS; OPTIC NERVE ATROPHY; PONS; PONTOCEREBELLAR HYPOPLASIA TYPE 3; PSYCHOMOTOR DEVELOPMENT; VESICOURETERAL REFLUX;

CEREBELLUM; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; OLIVOPONTOCEREBELLAR ATROPHIES; OPTIC ATROPHY; PONS; TETRALOGY OF FALLOT;

EID: 84859915867     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.07.011     Document Type: Article

References (10)

1. Barth P.G. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993, 15:411-422.
2. Barth P.G. Pontocerebellar hypoplasia - How many types?. Eur J Paediatr Neurol 2000, 4:161-162.
3. Barth P.G., Blennow G., Lenard H.G., Begeer J.H., van der Kley J.M., Hanefeld F., et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology 1995, 45:311-317.
4. Rajab A., Mochida G.H., Hill A., Ganesh V., Bodell A., Riaz A., et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology 2003, 60:1664-1667.
5. Albrecht S., Schneider M.C., Belmont J., Armstrong D.L. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol 1993, 85:394-399.
6. Shimojima K., Komoike Y., Tohyama J., Takahashi S., Páez M.T., Nakagawa E., et al. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 2009, 94:414-422.
7. Durmaz B., Wollnik B., Cogulu O., Li Y., Tekgul H., Hazan F., et al. Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. J Neurol 2009, 256:416-419.
8. Rauch R., Hofbeck M., Zweier C., Koch A., Zink S., Trautmann U., et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010, 47:321-331.
9. Jacob F.D., Hasai S., Goez H.R. Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. Pediatr Neurol 2011, 44:147-149.
10. Morriss-Kay G.M., Sokolova N. Embryonic development and pattern formation. FASEB J 1996, 10:961-968.