Deletion 22 Syndrome with Wide Spectrum of Anomalies: A Case Report
نویسندگان
چکیده
منابع مشابه
A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report.
A case is reported of a patient with deletion of the long arm of chromosome 7 at a highly specific locus (7q32). In addition to significant craniofacial stigmata and global developmental delay, the patient presented with numerous clinical and radiographic dental anomalies observed over a 10-year period. Hypodontia, accessory roots, dens invaginatus, hypoplastic enamel, and numerous pulpal anoma...
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DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in sit...
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Un cas de Syndrome de Rubinst.ein-Taybi Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogivale, et -une dysmorphie faciale caracteristique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...
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ژورنال
عنوان ژورنال: Iranian Journal of Pediatrics
سال: 2017
ISSN: 2008-2142,2008-2150
DOI: 10.5812/ijp.6121