Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Case Reports in Pediatrics
Gianluigi LaccettaRita Consolini

Abstract

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.

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

3130xl Genetic Analyzer

Related Concepts

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Body Dysmorphic Disorder

Body dysmorphic disorder is an intense preoccupation with an imagined defect in ones physical appearance. It can be a severely impairing disorder and is common among patients with obsessive-compulsive disorder. Discover the latest research on body dysmorphic disorder here.

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