22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Laryngeal atresia

Congenital absence of the lumen of the larynx.


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PMID (PMCID)
9128930
 FEMALE Infant, Newborn
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.
Fokstuen S, Bottani A, Medeiros PF, Antonarakis SE, Stoll C, Schinzel A.
Am J Med Genet. 1997;70(2):130-3.
Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome.