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 | 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
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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] 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
- 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
Neurologic
- Autism and Autism spectrum disorders
- Seizures (without hypocalcemia)
- 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.[1]
References
- ↑ 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/