PMID: 6403688Apr 1, 1983Paper

Autosomal recessive eye and brain anomalies: Warburg syndrome

The Journal of Pediatrics
R A PagonA E Hendrickson

Abstract

Two siblings are reported who appear to have an autosomal recessive disorder of eye and central nervous system anomalies. The findings in fourteen previously described and similarly affected patients are summarized. Ocular anomalies include microphthalmos, megalocornea, the Peter anomaly, cataract, coloboma, persistent hyperplastic primary vitreous, and retinal detachment with retinal dysplasia. Central nervous system malformations include agyria-pachygyria, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, and hydrocephalus. We suggest that this disorder be known as Warburg syndrome.

References

Jan 1, 1978·American Journal of Ophthalmology·M Warburg
Jan 1, 1978·Archives of Ophthalmology·M YanoffM I Allman
Nov 1, 1975·Acta paediatrica Scandinavica·B Svedbergh
Feb 1, 1976·Neuropädiatrie·K Jellinger, A Rett
Aug 1, 1968·Neurology·J HanawayN G Netsky
Feb 1, 1966·Neurology·J R Daube, S M Chou
Aug 1, 1981·Journal of Medical Genetics·R M Winter, A Garner
Jan 1, 1981·Archives of Neurology·R A Pagon, S Clarren
Apr 1, 1956·The Journal of Pathology and Bacteriology·L CROME
Oct 1, 1963·Neurology·J Q MILLER
Oct 1, 1946·Archives of Ophthalmology·A C KRAUSE

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Citations

Sep 1, 1987·European Journal of Pediatrics·M Warburg
Jan 1, 1984·Acta Neuropathologica·J TowfighiR L Ladda
Apr 10, 2013·Pediatric Surgery International·Sam W Moore
Nov 1, 1996·Clinical Neurology and Neurosurgery·Q H LeytenH J ter Laak
Jul 1, 1988·Pediatric Neurology·N TachiK Minagawa
Mar 10, 1998·Pediatric Neurology·R J KanoffE Pegoraro
Jun 1, 1993·Neuropathology and Applied Neurobiology·M V Squier
Dec 12, 2007·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Norbert UlfigPayam Rezaie
Oct 1, 1986·The British Journal of Ophthalmology·M F AttiaD W Milligan
Jun 1, 1986·Journal of Medical Genetics·D Donnai, P A Farndon
Aug 26, 2010·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Anand KumarP Vijayalakshmi
Sep 3, 2003·Paediatric Anaesthesia·H Sahajananda, Jeevan Meneges
May 1, 1986·Prenatal Diagnosis·C CroweL Dickerman
May 8, 1995·American Journal of Medical Genetics·D ChitayatL E Becker
Dec 1, 1985·American Journal of Medical Genetics·J D KivlinM S Williams
Nov 1, 1987·American Journal of Medical Genetics·S A FarrellC Caco
Oct 1, 1989·American Journal of Medical Genetics·J A EvansA G Hunter
Feb 1, 1989·American Journal of Medical Genetics·W B DobynsM Robinow
Jul 1, 1987·American Journal of Medical Genetics·B K BurtonR G Weaver
Sep 1, 1990·American Journal of Medical Genetics·R Gershoni-BaruchJ Braun
Jun 1, 1990·Ophthalmic Paediatrics and Genetics·K J MurphyD P Liu
Mar 1, 1989·Ophthalmic Paediatrics and Genetics·C S Cook
Mar 1, 1995·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·J F Martínez-LageT Rodriguez Costa
Nov 1, 1993·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·H GerdingH Busse
Aug 1, 1986·Ophthalmic Paediatrics and Genetics·R A BarthA H Bunt-Milam
Jan 1, 1989·Pediatric Pathology·A G Weinberg
Feb 1, 1987·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·P G Barth
Sep 11, 2002·European Journal of Ophthalmology·A ZervosE I Traboulsi
Nov 23, 2005·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Annemarie Stroustrup SmithRichard L Robertson
Dec 1, 1985·Ophthalmic Paediatrics and Genetics·G AlfieriE Lapi

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