Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.
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.
Division of Immunology and Allergy, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada. chaim.roifman@sickkids.ca
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001284:Atrophy; D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology*; D013577:Syndrome