681 THYMOSIN TREATMENT OF DI GEORGE SYNDROME
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 کاملObituary of Dr. Angelo Di George
Obituary Dr. Angelo M. DiGeorge a world renowned physician and pediatric endocrinologist, died at age of 88 years, on October 11, 2009 of kidney failure at his home in Philadelphia. Dr. DiGeorge first gained international recognition in the mid-1960’s for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. This birth defect...
متن کاملDetection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial ...
متن کاملThe First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing
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...
متن کاملDi-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.
This report describes two cases of Di-George syndrome presenting with hypoparathyroidism in adulthood. The first patient presented with profound hypocalcaemia that resulted in a generalised seizure. Routine investigations revealed hypoparathyroidism. The clue to her underlying condition was the postnatal death of her young child. This case shows that Di-George syndrome can present in adulthood ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00686