A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency.
Mental retardation, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, with a particular facies and shortened fifth finger were found in a 12-year-old Mexican girl. She has six siblings, of whom five have the same characteristics. The parents and the elder sister were not affected, and there was no history of consanguinity. This seems to be a new syndrome, and as both sexes are affected, the parents are normal and several siblings have the same syndrome, we postulate an autosomal recessive mode of inheritance.
D002648:Child; D004406:Dysgammaglobulinemia / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007070:Immunoglobulin A; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013684:Telangiectasis / Q000235:genetics*
D007070:Immunoglobulin A