Abstract
Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. 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. Histologic properties were compared between the groups. 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. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed.
Highlights
The 22q11.2 deletion syndrome (22q11.2DS) is the most common human microdeletion syndrome [1] with an estimated frequency around 1 in 4000 [2] but possibly as high as 1 in 2000 surviving newborns [3]. 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
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
In this study we aimed to confirm a myogenic component of the etiology of velopharyngeal insufficiency (VPI) in children with 22q11DS by analyzing the histology of the pharyngeal constrictor muscle (PCM) muscle
Summary
The 22q11.2 deletion syndrome (22q11.2DS) is the most common human microdeletion syndrome [1] with an estimated frequency around 1 in 4000 [2] but possibly as high as 1 in 2000 surviving newborns [3]. Incomplete velopharyngeal closure is most frequently related to structural abnormalities such as cleft palate or submucous cleft, but may be the corollary of neuromuscular impairment [5]. 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 [6], and the hypodynamic pharynx as viewed by nasendoscopy has been described as a ‘‘black hole’’ [7]
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