22q11.2 deletion syndrome physical examination

22q11.2 deletion syndrome Microchapters
Home
Overview
Historical Perspective
Classification
Pathophysiology
Differentiating 22q11.2 deletion syndrome from other Diseases
Causes
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
22q11.2 deletion syndrome physical examination On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of 22q11.2 deletion syndrome physical examination All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on 22q11.2 deletion syndrome physical examination
CDC on 22q11.2 deletion syndrome physical examination
22q11.2 deletion syndrome physical examination in the news
Blogs on 22q11.2 deletion syndrome physical examination
Directions to Hospitals Treating 22q11.2 deletion syndrome
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

History and physical are vital in the diagnosis and assesment of DGS. Most cases get diagnosed in the prenatal and pediatric periods, diagnosis can also occur in adulthood.

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

• Hearing loss (both conductive and sensorineural) (Hearing loss with craniofacial syndromes)

Throat

• Laryngotracheoesophageal anomalies

Extremities

• Skeletal abnormalities

Neurologic

• Autism and Autism spectrum disorders
• Seizures (without hypocalcemia)
• Learning difficulties (70-90%)