Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
نویسندگان
چکیده
منابع مشابه
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
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.
متن کاملDiGeorge syndrome with discordant phenotype in monozygotic twins
EDITOR—In a recent issue of this journal, Goodship et al reported monozygotic twins with a deletion in chromosome region 22q11 and a discordant phenotype. They concluded that phenotypic variability in this syndrome cannot be explained on the basis of genotypic diVerences alone. Here we report another case of monozygotic twins with an identical deletion in 22q11 but with discordant manifestation...
متن کاملDiGeorge syndrome with discordant phenotype in monozygotic twins.
EDITOR—In a recent issue of this journal, Goodship et al reported monozygotic twins with a deletion in chromosome region 22q11 and a discordant phenotype. They concluded that phenotypic variability in this syndrome cannot be explained on the basis of genotypic diVerences alone. Here we report another case of monozygotic twins with an identical deletion in 22q11 but with discordant manifestation...
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DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the thymus and parathyroid glands, cardiac defects and anomaly face. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. We report a woman ...
متن کاملDigeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2015
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2015/938074