Progeria physical examination

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

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].

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].

Appearance of the Patient

• Patients with Hutchinson-Gilford progeria syndrome (HGPS) usually appear normal at birth.
• Onset of symptoms usally occurs around 6-12 months in patients with Hutchinson-Gilford progeria syndrome (HGPS).

Vital Signs

• High blood pressure with normal pulse pressure.

Skin

• Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:
  • Skin atrophy
  • Skin dryness
  • Focal sclerotic and areas of laxity and outpouching of the skin
  • Intermittent hyperpigmentation along with hypopigmentation on the skin
  • Patients have indurated, shiny, inelastic skin
  • Aged-appearing skin due to the following:
    • Loss of subcutaneous fat(most commonly on the hands and fee)

HEENT

• Abnormalities of the hair may include
  • Hair loss
  • Baldness

• progressive eyelashes loss
• Facial features are very characteristic in patients with Hutchinson-Gilford progeria syndrome (HGPS) which include:
  • Circumoral cyanosis with Thin lips
  • Prominent scalp veins
  • Prominent eyes
  • Beaked nose
  • pseudo hydrocephalus
  • Micrognathia(undersized jaw)
  • Retrognathia(abnormal posterior positioning of the maxilla or mandible)
  • Protruding ears with absent lobes
  • Frontal and parietal bossing
  • Large anterior fontanel
• 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
• S1
• S2
• S3
• S4
• 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

• Musculoskeletal abnormalities which include:
  • Thin limbs with prominent joints
  • Coxa valga
  • Measured reductions in joint range of motion
  • Osteoarthritis
  • Joint contractures
  • Pyriform (pear-shaped) thorax
  • Bilateral hip dislocations
  • Avascular necrosis of the femoral head