DiGeorge Syndrome (Aplasia or thymic hypoplasia). Presentation and revision of literature.
Keywords:
KEY WORDS, DIGEORGE SYNDROMEAbstract
It is presented a female newborn at six months of age with a genetic syndrome of thymic aplasia and she was under immunologic and chromosomal analysis. The pathology was characterized by a spectrum of disorders, lack or poor development of the thymus and parathyroid glands with faults in the efferent tract of the heart and craniofacial anomalies (velo-cardio-facial syndrome VCFS). The term deletion syndrome describes the subjacent cromosomic problem and the term velo- cardio- facial syndrome refers to the main systems of the body. The patient coincided with the DiGeorge syndrome due to recurrent infections phenotypically compatible to the Agenesia or thymic aplasia, and also compared to other patients according to the observed bibliography, the calcium values towards the inferior limits and the lower radiologic image of the thymus, favouring the knowledge and the experience to increase the treatments of similar pathologies in the future.
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