Partial digeorge syndrome with hypertrophied arytenoids in a neonate: Expanding the clinical phenotype

Partial digeorge syndrome with hypertrophied arytenoids in a neonate: Expanding the clinical phenotype

Background: DiGeorge Syndrome (DGS) is caused by the 22q11 deletion. There is wide variation in the phenotypic presentation due to incomplete penetrance. Since dysmorphism is subtle in neonates, a high index of suspicion should be kept. Clinical Description: A 2.8 kg term baby girl born of a cesarea...

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Detalhes bibliográficos
Principais autores: Siddharth Madabhushi, Thirunavukkarasu Saravanamuthu, Chandra Kumar Natarajan, Vaanathi Hementha Kumar
Formato: Artigo
Idioma:English
Publicado em: Wolters Kluwer Medknow Publications 2022-01-01
coleção:Indian Pediatrics Case Reports
Assuntos:
di george syndrome
hypocalcemia
hypoparathyroidism
stridor
supraglottoplasty
Acesso em linha:http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=2;spage=110;epage=112;aulast=Madabhushi

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http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=2;spage=110;epage=112;aulast=Madabhushi

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