Otolaryngologic Manifestations of the 22q11.2 Deletion Syndrome

Dyce, Orville; McDonald‐McGinn, Donna M.; Kirschner, Richard E.; Zackai, Elaine H.; Young, Kathleen A.; Jacobs, Ian N.

doi:10.1001/archotol.128.12.1408

Cited by 115 publications

(94 citation statements)

References 22 publications

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“…With complete evaluation, these more subtle anomalies are found in about 60% of patients. 26,34 Feeding/failure to thrive There has been little study on the frequency of "failure to thrive" in infants with 22q11DS, but it has been clearly demonstrated that feeding problems are common. At least 30% of patients have serious feeding problems.…”

Section: Craniofacial Anomaliesmentioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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Abstract:The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects in 80% (with 20% having no outward signs to aid detection), hypocalcemia that can lead to seizures in 20% (though hypocalcemia is routinely investigated in sick newborns), and severe immune deficiency in Ͻ1% (which would be identified by some states' severe combined immunodeficiency screens). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey." Although universal screening may prove the incidence to be Ͼ1:5000, undetected life-threatening effects occur in a minority of 22q11 deletion syndrome patients. Concerns include an untested screening technique, difficulty obtaining results in time for cardiac intervention, the chance of "vulnerable child syndrome" in mild cases, and possibly detecting congenital heart disease more efficiently by other means. Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered. Genet Med 2010:12(3):135-144.

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Section: Craniofacial Anomaliesmentioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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“…De hecho, comparten la misma patogénesis que la estenosis subglótica congénita y puede considerarse un subgrupo de esta entidad. En algunos casos se asocian con microdelección de cromosoma 22q11 (síndrome velocardiofacial) [21].…”

Section: Estenosis Laringotraquealesunclassified

Obstrucción crónica de la vía aérea en la infancia. Causas más frecuentes. Tratamiento quirúrgico y endoscópico

Eguía

Sánchez

2017

Rev. ORL

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“…• Dificultades auditivas sub-diagnosticadas, secundarias a otitis medias efusivas, siendo la más habitual la hipoacusia de conducción (22,23) .…”

Section: Aspectos Otorrinolaringológicosunclassified

Descripción de características clínicas del síndrome velocardiofacial

Alvarez¹,

Palomares²,

Villena³

2012

Revista Chilena De Fonoaudiología

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RESUMENUno de los síndromes más frecuentes asociados a fisura palatina es el Síndrome Velocardiofacial. Sus características involucran aspectos faciales, cardiológicos, psicológicos, lingüísticos y de aprendizaje, que deben ser abordados por equipos multiprofesionales. Internacionalmente el estudio de este síndrome se ha ido masificando en forma progresiva. En nuestro país son escasos los grupos que manejan e intervienen en esta población. En este contexto es que se hace necesaria una revisión bibliográfica actualizada, que resuma los hallazgos clínicos y algunos aspectos de manejo multiprofesional, desde una perspectiva fonoaudiológica.Palabras clave: Síndrome Velocardiofacial, Fisura Palatina, Insuficiencia Velofaríngea, Faringoplastía. ABSTRACTVelo-Cardio-Facial syndrome (VCFS) is one of the most frequently associated syndromes to cleft palate. It comprises facial, cardiological, psychological, and linguistic disorders as well as learning difficulties which all must be addressed by a multi-professional team. The study of this syndrome has been systematically carried out around the world. In Chile, however, there are only few health-related professionals who work with this patient population. The present article aims at providing an up-to-date review, from a speech pathology point of view, on the clinical findings and on some aspects involved in the clinical management of VCFS.

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Otolaryngologic Manifestations of the 22q11.2 Deletion Syndrome

Abstract: Otolaryngologic abnormalities are relatively common and important to recognize with the 22q11.2 deletion syndrome.

Cited by 115 publications

References 22 publications

Newborn screening programs: Should 22q11 deletion syndrome be added?

Newborn screening programs: Should 22q11 deletion syndrome be added?

Obstrucción crónica de la vía aérea en la infancia. Causas más frecuentes. Tratamiento quirúrgico y endoscópico

Descripción de características clínicas del síndrome velocardiofacial

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