An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.
A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients 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 this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.
Plomp
A S
AS
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Reardon
W
W
Benton
S
S
Taylor
D
D
Larcher
V F
VF
Sundrum
R
R
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D012160:Retina / Q000002:abnormalities*; D013036:Spasms, Infantile / Q000473:pathology*