Turner syndrome physical examination: Difference between revisions

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Revision as of 10:11, 18 August 2020

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

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.

Vital Signs

High-grade / low-grade fever
Hypothermia / hyperthermia may be present
Tachycardia with regular pulse or irregularly irregular pulse - Hyperthyroidism
Bradycardia with regular pulse or irregularly irregular pulse - Hypothyroidism
Tachypnea - Secondary to Acute pulmonary edema from ischemic heart disease
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
Widened pulse pressure + water hammer pulse - Aortic Regurgitation secondary to aortic dissection

Skin

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

HEENT

Neck

Pterygium colli
Low posterior hair line
Loose skin on the nape of newborns

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

Prominent epicanthal folds
Bilateral epicanthus
Strabismus
Ptosis
Cataract
Nystagmus
Roth spots - secondary to infective endocarditis

Neck

Pterygium colli
Low posterior hair line
Loose skin on the nape of newborns
Jugular venous distension - Rule out Eisenmengirsation secondary to congenital heart defects, pressure may be transmitted to the internal ugular vein.
Hepatojugular reflux - There is an increased risk of ischemic heart disease and cardiomyopathy secondary to this may cause Right sided heart failure.

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

Patient has a wide shield shaped chest with inverted nipples.
S3 (rule out)
S4 (rule out)
Gallops (rule out)
A pansystolic murmur heard over the tricuspid area - Ventricular Septal defect
Early blowing diastolic murmur head over the left upper sternal border - Aortic regurgutation secondary to aortic dissection
Systolic ejection click followed by a crescendo decrescendo murmur (early P2 and delayed A2) - Early onset aortic stenosis secondary to a bicuspid aortic valve
Fever + Petechiae + Heart murmur - Infective Endocarditis

Abdomen

Look for signs of inflammatory bowel disease such as fistulas, skin tags and oral aphtous ulcers

Back

Kyphosis
Scoliosis

Genitourinary

Chronic estrogen deficiency may lead to signs of atrophic vaginitis
Rudimentary uterus
Palpable mass secondary to dysgerminoma or gonadoblastoma

Neuromuscular

Neuromuscular examination of patients with Turner syndrome is usually normal.

Extremities

Shortened limbs
Shortened 4th metacarpal
Cubitus valgus deformity
Madelung deformity
Cyanosis - Secondary to structural heart defects
Pitting edema of the upper/lower extremities - Hypothyroidism
Muscle atrophy

References

Template:WikiDoc Sources

@@ Line 4: / Line 4: @@
 ==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 of patients with [disease name] is usually normal.
-OR
-Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
+===Appearance of the Patient===
-OR
+*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.
-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].
-===Appearance of the Patient===
-*Patients with [disease name] usually appear [general appearance].
 ===Vital Signs===
@@ Line 40: / Line 21: @@
 *High-grade / low-grade fever
 *[[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 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
+===HEENT===
+'''Neck'''
+*Pterygium colli
+*Low posterior hair line
+*Loose skin on the nape of newborns
-UploadedImage-01.jpg | Description {{dermref}}
+'''Ear'''
-UploadedImage-02.jpg | Description {{dermref}}
-</gallery>
+*[[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 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 ugular 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===
-* 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===
-* 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 regurgutation 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 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 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 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 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
+*[[Cyanosis]] - Secondary to structural heart defects
+*Pitting [[edema]] of the upper/lower extremities - Hypothyroidism
 *Muscle atrophy
-*Fasciculations in the upper/lower extremity
 ==References==