Di George syndrome: Catch 22 (A case report)
نویسندگان
چکیده
منابع مشابه
Down Syndrome and Di George Syndrome: a Case Report
We present a case report of a newborn girl that was admitted at the University Childrens Hospital Braşov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syn...
متن کاملClinical Notes CATCH 22 Syndrome
CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypo...
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Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestati...
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'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran. Clinical diagnosis was confirmed by appropriate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thyroid -Gonad -Adrenal) and was discharged in good cond...
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In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
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ژورنال
عنوان ژورنال: Journal of Dental and Maxillofacial Surgery
سال: 2019
ISSN: 2578-7683
DOI: 10.18314/jdms.v2i1.1629