![]() A possible explanation is the hypotonia that is often present as part of the syndrome and which cannot be corrected by surgery. The functional outcome has been reported to be worse in patients with 22q11DS than in patients without the syndrome, ,,. Secondary velopharyngoplasty to correct the VPI may then follow. Surgical repair of palatal clefts does not sufficiently correct VPI in 10- 31.8% of all patients with VPI not restricted to those with 22q11DS, ,, ,, possibly due to stiffness or shrinkage of the velum due to scarring. Both seem to be factors in the etiology of VPI in patients with 22q11.2 deletion syndrome where palatal defects, adenoid hypoplasia, and platybasia enlarge the pharyngeal gap, and the hypodynamic pharynx as viewed by nasendoscopy has been described as a “black hole”. Incomplete velopharyngeal closure is most frequently related to structural abnormalities such as cleft palate or submucous cleft, but may also be the corollary of neuromuscular impairment. Velopharyngeal insufficiency is the failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities, resulting in hypernasal speech. One of the presenting features of 22q11DS is velopharyngeal insufficiency (VPI). Over 180 clinical features including every organ system have been associated with the deletion. It encompasses the phenotypes previously known as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, many cases of the autosomal dominant Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies). The 22q11.2 deletion syndrome (22q11.2DS) is the most common human microdeletion syndrome with an estimated frequency around 1 in 4000 but possibly as high as 1 in 2000 surviving newborns. ![]() In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. Histologic properties were compared between the groups. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty.
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