title: Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.
abstract: The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome. We observed three patients with type III laryngeal atresia (glottic web) and 22q11.2 microdeletion. One patient showed a "classical" 22q11.2 deletion phenotype with clinical overlap with DiGeorge and velo-cardio-facial syndromes. However, the pattern of congenital anomalies of the two others was less specific, heart defects and minor anomalies being the only outstanding clinical manifestations suspicious for monosomy 22q11.2. Our findings suggest that laryngeal atresia represents an additional malformation which should prompt investigation of 22q11.2 deletion, especially in combination with congenital heart defects.
authors.affiliation: Institut für Medizinische Genetik der Universität Zürich, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Fokstuen
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.forename: P F
authors.initials: PF
authors.lastname: Medeiros
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*