Infantile spasms and the CHARGE association.
A case is reported who had developmental delay, infantile spasms and the salient features of the CHARGE association--colobomatous micropthalmia, congenital heart-disease, mental retardation and hearing loss. This syndrome represents a distinct and clinically recognisable entity, and should be considered in patients with infantile spasms and ocular malformations.
D000015:Abnormalities, Multiple / Q000209:etiology*; D003103:Coloboma / Q000209:etiology; D003638:Deafness / Q000151:congenital; D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D013036:Spasms, Infantile / Q000209:etiology*