Turner syndrome physical examination: Difference between revisions

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==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].


OR
Physical examination may be suggestive of [[thyroid]] dysfunction, [[congenital heart defects]], [[inflammatory bowel disease]], characteristic [[skeletal deformities]] and [[body habitus]]/skin manifestations.  
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.


OR
===Appearance of the Patient===


Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
*Patient may show signs of poor growth velocity and [[malnutrition]] indicative of [[failure to thrive]].
*Patients may be [[hyperactive]].
*The presence of [[short stature]], a [[webbed neck]], [[pigmented nevi]], puffiness of the hands and feet, a [[cubitus valgus]] deformity, [[genu valgum]] on physical examination are highly suggestive of [[Turner syndrome]].  


OR
<gallery widths=150px>


The presence of [finding(s)] on physical examination is diagnostic of [disease name].
Turner Syndrome Phenotype.JPG| <ref name="pmid28496331">{{cite journal| author=Bucerzan S, Miclea D, Popp R, Alkhzouz C, Lazea C, Pop IV | display-authors=etal| title=Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study). | journal=Ther Clin Risk Manag | year= 2017 | volume= 13 | issue=  | pages= 613-622 | pmid=28496331 | doi=10.2147/TCRM.S126301 | pmc=5422538 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28496331  }} </ref>
Turner Syndrome Phenotype 2.JPG| <ref name="pmid24672170">{{cite journal| author=Vaddadi S, Murthy RS, Rahul CH, Kumar VL| title=A rare case of Turner's syndrome presenting with Mullerian agenesis. | journal=J Hum Reprod Sci | year= 2013 | volume= 6 | issue= 4 | pages= 277-9 | pmid=24672170 | doi=10.4103/0974-1208.126313 | pmc=3963314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24672170  }} </ref>
Turner Syndrome Phenotype 3.JPG | <ref name="pmid24672170">{{cite journal| author=Vaddadi S, Murthy RS, Rahul CH, Kumar VL| title=A rare case of Turner's syndrome presenting with Mullerian agenesis. | journal=J Hum Reprod Sci | year= 2013 | volume= 6 | issue= 4 | pages= 277-9 | pmid=24672170 | doi=10.4103/0974-1208.126313 | pmc=3963314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24672170  }} </ref>
Turner Syndrome Femae.JPG|


OR
</gallery>
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
 
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*High-grade / low-grade [[fever]]
*[[Hypothermia]] / hyperthermia may be present
*[[Hypothermia]] / [[hyperthermia]] may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Tachycardia]] with [[regular pulse]] or [[irregularly irregular pulse]] - [[Hyperthyroidism]]
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with [[regular pulse]] or [[irregularly irregular pulse]] - [[Hypothyroidism]]
*Tachypnea / bradypnea
*[[Tachypnea]] - Secondary to [[Acute pulmonary edema]] from [[ischemic heart disease]]
*Kussmal respirations may be present in _____ (advanced disease state)
*[[Hypertension]] in the upper extremities with [[hypotension]] in the lower extremities, decreased [[post ductal]] oxygen saturation in the lower extremities, absent lower extremity pulses - [[Coarctation of aorta]]
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*Widened [[pulse]] pressure + [[water hammer pulse]] - [[Aortic Regurgitation]] secondary to [[aortic dissection]]
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]
*


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[Pallor]]
* Bruises


<gallery widths="150px">
*[[Lymphedema]] of hands and feet
*Toe nail [[cellulitis]]
*[[Vitiligo]]
*[[Alopecia]]
*Nail [[hypoplasia]]
*[[Psoriasis]] - silver scaled [[erythrematous plaques]] present on [[extensor]] surfaces
*Pigmented [[melanocytic nevi]] - avoid rubbing against clothes.
*[[Hyperconvex]] nails
*[[Oslers nodes]], Jane way lesions]] - [[Infective Endocarditis]]


UploadedImage-01.jpg | Description {{dermref}}
===HEENT===
UploadedImage-02.jpg | Description {{dermref}}


</gallery>
'''Ear'''
 
*[[Weber test]] may be abnormal- Conductive hearing loss or sensorineural hearing loss
*[[Rinne test]] may be positive - Conductive hearing loss or sensorineural hearing loss
*External ear canal deformities may be noted.


===HEENT===
'''Eye'''
* HEENT examination of patients with [disease name] is usually normal.
OR
#Prominent [[epicanthal folds]]  
* Abnormalities of the head/hair may include ___
#[[Bilateral epicanthus]]
* Evidence of trauma
#[[Strabismus]]
* Icteric sclera
#[[Ptosis]]
* [[Nystagmus]]  
#[[Cataract]]
* Extra-ocular movements may be abnormal
#[[Nystagmus]]
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
#[[Roth spots]] - secondary to [[infective endocarditis]]
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
 
OR
*[[Pterygium colli]]
*[[Jugular venous distension]]
*Low posterior hair line
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*Loose skin on the nape of newborns
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Jugular venous distension]] - Rule out [[Eisenmengirsation]] secondary to [[congenital heart defects]], pressure may be transmitted to the [[internal jugular vein]].
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]] - There is an increased risk of [[ischemic heart disease]] and [[cardiomyopathy]] secondary to this may cause Right sided [[heart failure]].
*[[Hepatojugular reflux]]


===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
*[[Pulmonary]] examination of patients with [[Turner syndrome]] is usually normal.
OR
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally (rule out)
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope


===Abdomen===
*Patient has a wide shield shaped chest with inverted nipples.  
* Abdominal examination of patients with [disease name] is usually normal.
*[[Heart sounds#Third heart sound S3|S3]] (rule out)
OR
*[[Heart sounds#Fourth heart sound S4|S4]] (rule out)
*[[Abdominal distension]]  
*[[Heart sounds#Summation Gallop|Gallops]] (rule out)
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*A [[pansystolic murmur]] heard over the [[tricuspid]] area - [[Ventricular Septal defect]]
*[[Rebound tenderness]] (positive Blumberg sign)
*Early blowing [[diastolic murmur]] head over the left upper [[sternal border]] - [[Aortic regurgitation]] secondary to [[aortic dissection]]
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*[[Systolic ejection click]] followed by a [[crescendo decrescendo murmur]] (early P2 and delayed A2) - Early onset [[aortic stenosis]] secondary to a [[bicuspid aortic valve]]
*Guarding may be present
*Fever + [[Petechiae]] + [[Heart murmur]] - [[Infective Endocarditis]]
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
 
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test
===Abdomen===
 
*Look for signs of [[inflammatory bowel disease]] such as [[fistulas]], [[skin tags]] and oral [[aphtous ulcers]]


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
 
OR
*[[Kyphosis]]
*Point tenderness over __ vertebrae (e.g. L3-L4)
*[[Scoliosis]]
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
 
OR
*Chronic [[estrogen]] deficiency may lead to signs of [[atrophic vaginitis]]
*A pelvic/adnexal mass may be palpated
*[[Rudimentary uterus]]
*Inflamed mucosa
*Palpable mass secondary to [[dysgerminoma]] or [[gonadoblastoma]]
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
 
OR
*[[Neuromuscular]] examination of patients with [[Turner syndrome]] is usually normal.
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
 
OR
*Shortened limbs
*[[Clubbing]]  
*Shortened 4th [[metacarpal]]
*[[Cyanosis]]  
*[[Cubitus valgus]] deformity
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*[[Madelung deformity]]  
*Muscle atrophy
*[[Cyanosis]] - Secondary to structural heart defects
*Fasciculations in the upper/lower extremity
*Pitting [[edema]] of the upper/lower extremities - [[Hypothyroidism]]
*[[Muscle atrophy]]


==References==
==References==

Latest revision as of 12:12, 15 September 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Overview

Physical examination may be suggestive of thyroid dysfunction, congenital heart defects, inflammatory bowel disease, characteristic skeletal deformities and body habitus/skin manifestations.

Physical Examination

Appearance of the Patient

Vital Signs

Skin

HEENT

Ear

  • Weber test may be abnormal- Conductive hearing loss or sensorineural hearing loss
  • Rinne test may be positive - Conductive hearing loss or sensorineural hearing loss
  • External ear canal deformities may be noted.

Eye

  1. Prominent epicanthal folds
  2. Bilateral epicanthus
  3. Strabismus
  4. Ptosis
  5. Cataract
  6. Nystagmus
  7. Roth spots - secondary to infective endocarditis

Neck

Lungs

  • Pulmonary examination of patients with Turner syndrome is usually normal.
  • Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally (rule out)

Heart

Abdomen

Back

Genitourinary

Neuromuscular

Extremities

References

  1. ↑ Bucerzan S, Miclea D, Popp R, Alkhzouz C, Lazea C, Pop IV; et al. (2017). "Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)". Ther Clin Risk Manag. 13: 613–622. doi:10.2147/TCRM.S126301. PMC 5422538. PMID 28496331.
  2. ↑ 2.0 2.1 Vaddadi S, Murthy RS, Rahul CH, Kumar VL (2013). "A rare case of Turner's syndrome presenting with Mullerian agenesis". J Hum Reprod Sci. 6 (4): 277–9. doi:10.4103/0974-1208.126313. PMC 3963314. PMID 24672170.

​


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