Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
نویسندگان
چکیده
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests.
منابع مشابه
Digeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly
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DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adoles...
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عنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015