Down Syndrome (Trisomy 21): Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps:

  • General physical examination – including blood pressure, pulse, body temperature, body weight, body height; furthermore:
    • Inspection (viewing).
      • Skin, mucous membranes and sclerae (white part of the eye) [due tomultiple dermatological sequelae].
      • Gait [limping]
      • Body or joint posture
      • Malpositions [deformity, shortening, rotational malposition].
      • Muscular atrophies
      • Oral cavity [due tosymptoms: generally reduced mouth].
      • Abdomen (abdomen) [due tosecondary diseases of the gastrointestinal tract (gastrointestinal tract)]
      • Shape of the abdomen?
      • Skin color? Skin texture?
      • Efflorescences (skin changes)?
      • Pulsations? Bowel movements?
      • Visible vessels?
  • Auscultation (listening) of the heart [due toclarification of a heart defect].
  • Examination of the lungs
    • Auscultation (listening) of the lungs [expiratory (“on exhalation”) wheezing?, prolonged expiratory? ; dry rales (RGs)?]
    • Bronchophony (checking the transmission of high-frequency sounds; the patient is asked to pronounce the word “66” several times in a pointed voice while the physician listens to the lungs).
    • [increased sound conduction due to pulmonary infiltration/compaction of lung tissue (e.g., in pneumonia) the consequence is, the number “66” is better understood on the diseased side than on the healthy side; in case of decreased sound conduction (attenuated or absent): e.g., pleural effusion, emphysema). The result is, the number “66” is barely audible to absent over the diseased part of the lung, because the high-frequency sounds are strongly attenuated]
    • Percussion (tapping) of the lungs [e.g., hypersonoric tapping sound in bronchial asthma]
    • Vocal fremitus (testing the transmission of low frequencies; the patient is asked to say the word “99” several times in a low voice while the physician places his or her hands on the patient’s chest or back)
    • [increased sound conduction due to pulmonary infiltration/compaction of lung tissue (e.g., in pneumonia) the consequence is, the number “99” is better understood on the diseased side than on the healthy side; in the case of decreased sound conduction (attenuated: e.g., pleural rind; severely attenuated or absent: in pleural effusion, emphysema). The result is, the number “99” is barely audible to absent over the diseased part of the lung, because the low-frequency sounds are strongly attenuated]
  • Examination of the abdomen (abdomen)
    • Auscultation (listening) of the abdomen [due tosecondary diseases: malformations of the gastrointestinal tract?]
    • Percussion (tapping) of the abdomen.
      • Meteorism (flatulence)? [due tosequelae: chronic idiopathic constipation (constipation)]
      • Attenuation of the knock due to enlarged liver or spleen, tumor, urinary retention?
    • Palpation (palpation) of the abdomen (abdomen) (pressure pain?, knocking pain?, coughing pain?, defensive tension?, hernial orifices?, renal bearing knocking pain?) [due tosequelae: Malformations of the gastrointestinal tract?
  • Digital rectal examination (DRU): examination of the rectum (rectum) and adjacent organs with the finger by palpation: assessment of the prostate in size, shape and consistency.
  • Cancer screening [due tosecondary diseases: acute leukemias].
  • Ophthalmological examination [due tosequelae: syringomaand general visual impairment].
  • ENT medical examination [due tosecondary disease: hypacusis (hearing loss)]
  • Orthopedic examination [due tovariety of secondary diseases]
  • Psychiatric examination [due tosecondary diseases:
    • Anxiety disorders
    • Autism
    • Depression]
  • Health Check

Square brackets [ ] indicate possible pathological (pathological) physical findings.