22q11.2 deletion syndrome physical examination

Jump to navigation Jump to search

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] Ayushi Jain, M.B.B.S[3]

Overview

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

Physical Examination

Head

Ear

Throat

  • Laryngotracheoesophageal anomalies

Extremities

Neurologic

A complete cardiopulmonary evaluation can reveal murmurs, cyanosis, clubbing, or edema consistent with aortic arch anomalies, conotruncal defects (e.g., tetralogy of Fallot, truncus arteriosus, pulmonary atresia with ventricular septal defect, transposition of the great vessels, interrupted aortic arch), or tricuspid atresia.

Recurrent sinopulmonary infections due to T cell deficiency as a result of thymic hypoplasia

Signs of hypocalcemia, including twitching and muscle spasm, may be evident as a result of parathyroid hypoplasia. Chvostek's and Trousseau's signs may be positive.

Delayed development, unusual behavior, or signs of psychiatric disorders may be observable.[1]

References

  1. Lackey AE, Muzio MR. DiGeorge Syndrome. [Updated 2020 Jun 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549798/

Template:WH Template:WS