Partial laryngeal atresia in patients with 22q11 deletion syndrome: findings and surgical outcomes
نویسندگان
چکیده
منابع مشابه
Hypoparathyroidism and 22q11 deletion syndrome.
AIMS To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS Sixty...
متن کامل22q11 Deletion Syndrome with Vascular Anomalies
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...
متن کامل22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is as...
متن کاملmodern surgical techniques in treatment of patients with cleft lip & cleft palate
چکیده ندارد.
15 صفحه اولYoung Adult Outcomes for Children With 22q11 Deletion Syndrome and Comorbid ADHD.
Background 22q11.2 deletion syndrome (22q11DS) is a common microdeletion syndrome associated with a variety of negative health, cognitive, emotional, and behavioral outcomes. 22q11DS is comorbid with many psychiatric disorders including attention-deficit/hyperactivity disorder (ADHD). The current study aimed to investigate the cognitive, behavioral, and functional outcomes that a childhood ADHD...
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ژورنال
عنوان ژورنال: Australian Journal of Otolaryngology
سال: 2021
ISSN: 2616-2792
DOI: 10.21037/ajo-20-81