22q11.2 deletion syndrome physical examination: Difference between revisions
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Created page with "__NOTOC__ {{22q11.2 deletion syndrome}} {{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} ==Overview== ==Physical Examination== ===Head=== * Palatal abnormalities (69%),..." |
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* [[Hearing impairment| | * [[Hearing impairment|Hearing loss]] (both [[conductive]] and [[sensorineural]]) ([[Hearing loss with craniofacial syndromes]]) | ||
===Throat=== | ===Throat=== | ||
Revision as of 17:38, 24 August 2012
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22q11.2 deletion syndrome Microchapters |
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Differentiating 22q11.2 deletion syndrome from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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22q11.2 deletion syndrome physical examination On the Web |
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American Roentgen Ray Society Images of 22q11.2 deletion syndrome physical examination |
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Risk calculators and risk factors for 22q11.2 deletion syndrome physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Physical Examination
Head
- Palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals) including hypertelorism.
Ear
Throat
- Laryngotracheoesophageal anomalies
Extremities
- Skeletal abnormalities
Neurologic
- Autism and Autism spectrum disorders
- Seizures (without hypocalcemia)
- Learning difficulties (70-90%)