An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities

A female patient is presented with infantile spasms, punched-out retinal le sions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growt h retardation and severe developmental delay. There is some similarity to p atients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of thi s syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor reje cted with certainty. However, it might be more likely that our patient has another, possibly unique, condition. Clin Dysmorphol 9: 189-192 (C) 2000 Li ppincott Williams & Wilkins.