PMID: 8952799Oct 1, 1996Paper

The CHARGE association

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
E FinelL de Parscau

Abstract

The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.

References

Jan 1, 1991·Journal of Medical Genetics·J A HurstM Baraitser
Feb 1, 1990·Archives of Disease in Childhood·K D BlakeR K Wyse
Jul 1, 1990·The British Journal of Ophthalmology·I M Russell-EggittR K Wyse
Mar 1, 1988·Journal of Medical Genetics·C A OleyD B Grant
May 1, 1988·International Journal of Pediatric Otorhinolaryngology·N O DuncanF I Catlin
Oct 1, 1987·International Journal of Pediatric Otorhinolaryngology·J E Leclerc, B Fearon
Jan 1, 1993·Archives of Otolaryngology--head & Neck Surgery·D MorganR Wyse

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Citations

Feb 15, 2007·European Journal of Human Genetics : EJHG·Damien Sanlaville, Alain Verloes
Dec 11, 1999·Teratology·K KällénB Källén

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