22q11.2 deletion syndrome physical examination: Difference between revisions

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{{22q11.2 deletion syndrome}}
{{22q11.2 deletion syndrome}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} {{ajane}}


==Overview==
==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.  
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==
==Physical Examination==
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===Extremities===
===Extremities===
* [[Skeletal]] abnormalities
* [[Skeletal]] [[abnormalities]]


===Neurologic===
===Neurologic===
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* [[Seizures]] (without [[hypocalcemia]])
* [[Seizures]] (without [[hypocalcemia]])
* [[Learning difficulties]] (70-90%)
* [[Learning difficulties]] (70-90%)
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.<ref>Lackey AE, Muzio MR. DiGeorge Syndrome. [Updated 2020 Jun 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK549798/</nowiki></ref>


==References==
==References==

Latest revision as of 19:13, 10 July 2020

22q11.2 deletion syndrome Microchapters

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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/

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