Upper airway asymmetry in velo-cardio-facial syndrome

Chegar, Burke E.; Tatum, Sherard A.; Marrinan, Eileen M.; Shprintzen, Robert J.

doi:10.1016/j.ijporl.2006.02.007

Cited by 43 publications

(41 citation statements)

References 30 publications

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“…Our findings suggested that VCFS patients 14 The high rates of vascular abnormalities were found in patients with VCFS. 1,14e18 It has been hypothesized that vascular anomalies may result in developmental sequences related to unequal, interrupted, or diminished perfusion.…”

Section: Discussionsupporting

confidence: 53%

“…15,16 Moreover, neurologic component might explain the levator muscle hypoplasia and asymmetry. 14,19 There are a number of studies on the effects of transpalatal transmission in connection with resonance. McWilliams reported that some patients had thin palates and no evidence of submucous clefts 20 ; however, the patients closed the velopharyngeal valve during speech, and they often had mild hypernasality.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging

Mi-Kyong

Ahn

Jeong

et al. 2015

Journal of Plastic, Reconstructive & Aesthetic Surgery

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Velocardiofacial syndrome (VCFS) is associated with velopharyngeal insufficiency, which occurs in approximately 75% of VCFS patients. Surgical management of velopharyngeal insufficiency in VCFS patients is difficult with a high revision rate due to the anatomic and physiological abnormalities of the velopharynx. The aims of this study were to evaluate the thickness and symmetry of the levator veli palatini (LVP) muscle using magnetic resonance imaging (MRI), and to compare the findings in VCFS patients to those in patients with nonsyndromic submucous cleft palate. We conducted a prospective analysis of 17 VCFS patients (nine boys, eight girls; age range, 4-9 years) and nine patients with submucous cleft palate without VCFS (eight boys, one girl; age range, 4-13 years) who had undergone MRI between March 2009 and August 2013. The thickness of the LVP muscle was measured at six locations in both groups. The symmetry was determined by comparing the values between the average of the left three points and the right three points. The mean LVP muscle thickness was significantly thinner in VCFS patients (2.14 ± 0.73 mm) than in patients without VCFS (3.70 ± 1.08 mm) (p < 0.001). In addition, the difference between the left and right sides of muscle thickness in the VCFS group was larger than that in the nonsyndromic submucous cleft palate group (0.25 and 0.09 mm, respectively). The thinness and asymmetry of the LVP muscle should be considered when determining the surgical management of velopharyngeal insufficiency in VCFS patients.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging

Mi-Kyong

Ahn

Jeong

et al. 2015

Journal of Plastic, Reconstructive & Aesthetic Surgery

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“…However, occult submucous cleft palate is an identifiable anomaly that is a form of cleft palate that often goes undetected because it requires endoscopic examination of the nasal surface of the velum [Shprintzen, 1982, 2000bShprintzen, 2005. It has also been found that there is a high frequency of palatal and pharyngeal asymmetry in VCFS that can also only be determined by endoscopic assessment [Chegar et al, 2006]. Among the anomalies seen in the pharynx are major vascular anomalies including abnormal placement of the internal carotid arteries [MacKenzie-Stepner et al, 1987;Mitnick et al, 1996;Tatum et al, 2002] and tortuous or kinked vertebral arteries [Mitnick et al, 1996].…”

Section: Clinical Features and The Vcfs Phenotypementioning

confidence: 99%

“…The distinction between the two syndromes is important because the diagnostic and treatment implications are significant. Opitz syndrome has specific anomalies of the larynx and esophagus that do not occur in VCFS, but VCFS has anomalies of the larynx different from those in Optiz syndrome [Chegar et al, 2006]. The diagnosis and management of laryngeal cleft or tracheoesophageal fistula, which do occur in Opitz syndrome but do not in VCFS, would be completely different than the management of laryngeal web and laryngomalacia that occur in VCFS.…”

Section: Introductionmentioning

confidence: 99%

Velo‐cardio‐facial syndrome: 30 Years of study

Shprintzen

2008

Dev Disabil Res Revs

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415

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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“…However, the most common forms of palatal anomalies are submucous cleft palate and occult submucous cleft palate, as observed endoscopically [1,28].…”

Section: Thymusmentioning

confidence: 99%

Head and neck manifestations of 22q11.2 deletion syndromes

Marom

Roth

Goldfarb

et al. 2011

Eur Arch Otorhinolaryngol

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The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives ("22q11.2 deletion syndromes", 22q.11DS), consequently affecting the anatomy and physiology of head and neck (H&N) organs. The objective of this paper was to describe those manifestations. Two 22q11.2DS patients with H&N manifestations were studied along with a comprehensive review of the English literature, from 1975 to 2010 regarding the associated H&N malformations among 22q11.2DS. A 24-year-old mentally disabled 22q11.2DS male presented with right hemithyroid enlargement, causing significant compressive signs. Sonography revealed a homogeneous 8 × 3 cm lesion, replacing almost the entire thyroid lobe. Fine needle aspiration revealed colloid material and abundant eosinophils. The hemithyroidectomy specimen confirmed follicular adenoma. A 19-year-old mentally disabled 22q11.2DS female underwent CT-angiography due to an upper GI bleeding. The study revealed a vascular malformation in the infratemporal fossa. Reviewing the reported data regarding 22q11.2DS-associated H&N malformations revealed abnormalities and malfunctions of the thyroid gland, parathyroid glands, thymus agenesis, cleft palate, carotid artery aberrations, malformations of the larynx and trachea and esophageal dysmotility. 22q11.DS patients may present with H&N anatomical abnormalities, along with hormonal dysfunctions, which require special awareness once treatment is offered, especially when concerning anesthetic and surgical aspects. In addition, hSNF5/INI1, a tumor suppressor gene, detected at location 22q11.2 was described to be "knocked out" in some patients. This may be associated with H&N tumors reported in these patients.

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Upper airway asymmetry in velo-cardio-facial syndrome

Cited by 43 publications

References 30 publications

Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging

Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging

Velo‐cardio‐facial syndrome: 30 Years of study

Head and neck manifestations of 22q11.2 deletion syndromes

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