Thickness and Histologic and Histochemical Properties of the Superior Pharyngeal Constrictor Muscle in Velocardiofacial Syndrome

Zim, Shane; Schelper, Robert L.; Kellman, Robert M.; Tatum, Sherard A.; Ploutz‐Snyder, Robert; Shprintzen, Robert J.

doi:10.1001/archfaci.5.6.503

Cited by 55 publications

(51 citation statements)

References 22 publications

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“…This is not surprising given evidence of broader neuromotor differences in VCFS including smaller diameter and reduced thickness of the superior pharyngeal constrictor muscle, brain abnormalities (e.g., cerebellum, thalamus), generalized hypotonia and motor delays [17][18][19][20] . Future research should continue to investigate VP structural and timing differences in a larger sample of children with VCFS to determine if this is seen in the broader population or is a reflection of a subgroup within the syndrome.…”

Section: Discussionmentioning

confidence: 96%

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome

Baylis

Watson

Moller

2009

Folia Phoniatr Logop

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Objective: Hypernasality in velocardiofacial syndrome (VCFS) is more severe, persistent, and difficult to manage compared to other populations with cleft palate or velopharyngeal (VP) dysfunction. This pilot study investigated why children with VCFS have more severe hypernasality. Methods: Pressure-flow methodology indirectly measured VP orifice size and VP closure timing during speech in a group of 5 children with VCFS, 5 children with cleft palate, and 6 normal children. Results: Children with VCFS demonstrated significant differences in VP closure timing and hypernasality. There were no significant group differences in VP orifice size. Duration of nasal airflow was the strongest predictor of judgments of hypernasality. Conclusion: This study provides preliminary evidence that VP closure timing may account for the more severe hypernasality in children with VCFS, compared to structural factors alone.

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Section: Discussionmentioning

confidence: 96%

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome

Baylis

Watson

Moller

2009

Folia Phoniatr Logop

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“…These vascular anomalies have been cited as potentially dangerous risks when pharyngeal surgery is being planned [MacKenzie-Stepner et al, 1987;Mitnick et al, 1996;Tatum et al, 2002]. It has also been reported that the muscle tissue in the pharynx has abnormally small fiber size and abnormal distribution of fiber type [Zim et al, 2003]. All of these factors have been cited as risk factors for the development of velopharyngeal insufficiency and hypernasal speech.…”

Section: Clinical Features and The Vcfs Phenotypementioning

confidence: 99%

Velo‐cardio‐facial syndrome: 30 Years of study

Shprintzen

2008

Dev Disabil Res Revs

412

403

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Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velocardio-facial syndrome do not develop psychosis, the risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than the general population. Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong.

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“…Finally, it has also been described that tonsils are commonly enlarged in patients with VCFS. In some cases, when tonsil tissue grows in the superior aspect, it can interfere with velopharyngeal closure during speech [14][15][16][23][24][25].…”

Section: Q112dsmentioning

confidence: 99%

Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

Ysunza

Craniofacial²,

Lozon³

2013

Clon Transgen

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All congenital structural defects in the body are the result of an error in morphogenesis. Morphogenesis takes place around 25 to 29 days of intrauterine life. Chromosomal syndromes involve a phenotypically significant structural and/or numerical chromosomal abnormality.An insufficient function of the velopharyngeal sphincter induces excessive nasal resonance during speech. This abnormal resonance is called hypernasality. A deficient seal of the velopharyngeal sphincter creates an airflow leaking into the rhinopharynx, resulting in abnormal air turbulence through the nasal cavities which can be easily perceived and is called nasal emission. Hypernasality and nasal emission are the clinical signs of velopharyngeal insufficiency (VPI). In other words, VPI is the velopharyngeal inability to create an efficient seal during speech.Most chromosomal syndromes cause VPI as a consequence of a cleft palate. However, when patients with a chromosomal abnormality and VPI are being clinically assessed, it is essential to keep in mind that an apparently and morphologically intact uvula and velum do not rule out the possibility of a sub mucous cleft palate.Several chromosomal syndromes can be associated with VPI, including: 22q11.2 deletion syndrome (22q11.2DS) or velocardiofacial syndrome among other names, Opitz G/BBB syndrome (OS), Kabuki syndrome (KS) and Jacobsen syndrome (JS). Pierre -Robin sequence (PRS) can be associated with some chromosomal syndromes. In these cases, PRS is referred as syndromic PRS.In this paper, the diagnosis and management of VPI in the most common chromosomal syndromes is discussed.

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Thickness and Histologic and Histochemical Properties of the Superior Pharyngeal Constrictor Muscle in Velocardiofacial Syndrome

Cited by 55 publications

References 22 publications

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome

Velo‐cardio‐facial syndrome: 30 Years of study

Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

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