22q11.2 deletion syndrome physical examination: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
m Categories |
||
Line 29: | Line 29: | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Rheumatology]] |
Revision as of 15:07, 20 June 2016
22q11.2 deletion syndrome Microchapters |
Differentiating 22q11.2 deletion syndrome from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
22q11.2 deletion syndrome physical examination On the Web |
American Roentgen Ray Society Images of 22q11.2 deletion syndrome physical examination |
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%)