Journal
CLINICAL GENETICS
Volume 76, Issue 5, Pages 449-457Publisher
WILEY-BLACKWELL PUBLISHING, INC
DOI: 10.1111/j.1399-0004.2009.01239.x
Keywords
ataxia; developmental delay; facial dysmorphism; immunodeficiency; myoclonic seizures; optic atrophy
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Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology.
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