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==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
A detailed physical examination has three parts: <ref>{{cite journal |vauthors=Kishore MT, Udipi GA, Seshadri SP |title=Clinical Practice Guidelines for Assessment and Management of intellectual disability |journal=Indian J Psychiatry |volume=61 |issue=Suppl 2 |pages=194–210 |date=January 2019 |pmid=30745696 |pmc=6345136 |doi=10.4103/psychiatry.IndianJPsychiatry_507_18 |url=}}</ref>
# [[Anthropometry]] – provides an estimate of the [[nutrition]], any underlying [[medical]] or [[genetic]] condition. Assessment includes: [[height]], [[arm span]], sitting [[height]], [[weight]], [[head circumference]], [[chest]] circumference, [[abdominal]] circumference, [[intercanthal]] and [[interpupillary]] distances, and [[palm]] and [[foot]] lengths.
# [[Dysmorphology]] [[examination]] – this documents [[birth defects]] by conducting a [[head-to-toe]] examination to look for minor physical anomalies that could shed light on the [[etiology]] of ID.
# Examination of major [[organ systems]]- this could provide clues toward a [[disorder]] involving [[inborn error of metabolism]]. [[Assessment]] should include [[vision]], [[hearing]], and [[gait]]. Patients are referred to [[geneticists]] for further evaluation in case of a [[minor physical anomaly]].
#[[Behavioral]] observation – this is to correlate the [[clinical history]] and [[intellectual]] and [[behavioral]] [[abilities]]. It starts with observing [[general appearance]], any oddities in [[behavior]], [[attention span]], [[receptive]] and [[expressive]] [[speech]], [[social skills]].  


OR
*'''[[HEENT]]'''
**[[Scalp]] [[hair]]: sparse, light-colored, double [[whorl]] on the [[scalp]], easily breakable
**[[Skull]] shape: [[brachycephaly]], [[scaphocephaly]], [[trigonocephaly]], [[oxycephaly]], [[plagiocephaly]]
**[[Facial]] appearance: [[coarse facies]], elongated, triangular, small
**[[Eyes]]: deeply set, prominent, [[microphthalmia]], [[upslanting]]/[[downslanting]] [[palpebral]] [[fissures]], [[hypertelorism]], [[strabismus]], [[ptosis]], bushy [[eyebrows]], [[synopharys]], [[microcornea]], [[corneal]] [[clouding]], [[cataracts]], [[coloboma]] of the [[iris]], [[blue sclera]], [[telangiectasia]]
**[[Ears]]: low set, small, large, [[malformed]], posteriorly rotated, [[anteverted]], [[periauricular tags]], [[pits]], cup shape
**[[Nose]]: depressed [[nasal bridge]], short and stubby, beak-shaped, bulbous tip, flaring, hypoplastic [[nostrils]]
**[[Palate]]: [[high-arched]], ridged, [[cleft]], [[bifid]] [[uvula]]
**[[Chin]]: prominent, [[retrognathia]], [[micrognathia]]


Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
*'''[[Chest]]:''' [[pectus excavatum]], [[pectus carinatum]], [[nipple]] [[anomalies]], [[gynecomastia]]
 
*'''[[Abdomen]]:''' [[Protuberant]], [[scaphoid]], [[umbilical]] [[hernia]], [[hepatosplenomegaly]], [[inguinal]] [[hernia]]
OR
*''' [[Genitourinary]]:''' [[micropenis]], [[micro-orchidism]] or [[macro-orchidism]], undescended [[testis]], [[ambiguous genitalia]], [[hypospadias]], absent [[secondary sexual characteristics]], [[shawl]] [[scrotum]]
 
*'''[[Neuromuscular]]:''' [[kyphosis]], [[scoliosis]], [[spina bifida]]
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*'''[[Extremities]]'''
 
**[[Hands]]: broad, shorthands, [[simian crease]], [[Sidney line]], spade-shaped
OR
**[[Fingers]]: [[clinodactyly]], [[brachydactyly]], [[syndactyly]], [[camptodactyly]], [[arachnodactyly]], [[polydactyly]]
 
**[[Feet]]: [[Pes planus]], [[pes cavus]], [[valgus]]/[[varus]], broad [[hallux]], increased distance between 1st and 2nd [[toes]]
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
*'''[[Skeletal]]''': [[exostoses]], increase carrying angles, [[joint hypermobility]]
 
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].
 
===Vital Signs===
 
*High-grade / low-grade fever
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*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">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>
 
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
OR
* Abnormalities of the head/hair may include ___
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]  
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*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
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]
 
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
OR
* 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===
* Abdominal examination of patients with [disease name] is usually normal.
OR
*[[Abdominal distension]]  
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test
 
===Back===
* Back examination of patients with [disease name] is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump
 
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
 
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
OR
*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
*[[Clubbing]]  
*[[Cyanosis]]  
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==

Latest revision as of 04:46, 22 July 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]

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

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

A detailed physical examination has three parts: [1]

  1. Anthropometry – provides an estimate of the nutrition, any underlying medical or genetic condition. Assessment includes: height, arm span, sitting height, weight, head circumference, chest circumference, abdominal circumference, intercanthal and interpupillary distances, and palm and foot lengths.
  2. Dysmorphology examination – this documents birth defects by conducting a head-to-toe examination to look for minor physical anomalies that could shed light on the etiology of ID.
  3. Examination of major organ systems- this could provide clues toward a disorder involving inborn error of metabolism. Assessment should include vision, hearing, and gait. Patients are referred to geneticists for further evaluation in case of a minor physical anomaly.
  4. Behavioral observation – this is to correlate the clinical history and intellectual and behavioral abilities. It starts with observing general appearance, any oddities in behavior, attention span, receptive and expressive speech, social skills.

References

  1. ↑ Kishore MT, Udipi GA, Seshadri SP (January 2019). "Clinical Practice Guidelines for Assessment and Management of intellectual disability". Indian J Psychiatry. 61 (Suppl 2): 194–210. doi:10.4103/psychiatry.IndianJPsychiatry_507_18. PMC 6345136. PMID 30745696.

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