Primary ciliary dyskinesia physical examination

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

Overview

Primary ciliary dyskinesia has no characteristic physical examination findings, however, any clue to recurrent sinus infections or respiratory distress should raise concern for diagnosing primary ciliary dyskinesia.

Physical Examination

Physical examination of patients with primary ciliary dyskinesia could show digital clubbing incase of recurrent sinus or chronic lung infections.

Appearance of the Patient

  • Patients with primary ciliary dyskinesia usually appear normal in appearance. Clinical manifestations may vary from patient to patient, hence all patients present differently.

Vital Signs

Vital signs are normal in patients with primary ciliary dyskinesia.

Skin

  • Skin examination of patients with primary ciliary dyskinesia is usually normal.

HEENT

  • HEENT examination of patients with primary ciliary dyskinesia is as following,
  • Sinus and paranasal sinus
  • Prolonged nasal congestion
  • Recurrent sinus infections
  • Muco purulent nasal discharge
  • Nasal obstruction
  • Mouth breathing and halitosis
  • Nasal polyp
  • Halitosis
  • Ears
  • Inflammation of the tympanic membrane with possible perforation and purulent discahrege
  • Conductive hearing loss
  • Otitis media[1]

Neck

  • Neck examination of patients with primary ciliary dyskinesia is usually normal.

Lungs

  • Pulmonary examination of patients with primary ciliary dyskinesia could demonstrate.
  • Respiratory distress in newborns
  • Chronic cough
  • Recurrent pneumonia
  • In the case of atelectasis absent breath sounds
  • Retractions
  • Hypoxia
  • Wheeze[2]

Heart

  • In the case of dextrocardia apex impulse could be felt on the right side in patients with primary ciliary dyskinesia.

Abdomen

  • Abdominal examination may demonstrate spleen and liver in the opposite sides incase of situs inversus.

Back

  • Back examination of patients with primary ciliary dyskinesia is usually normal.

Genitourinary

  • primary ciliary dyskinesia may present with infertility in both male and females.

Neuromuscular

  • Neuromuscular examination of patients with primary ciliary dyskinesia is usually normal.

Extremities

  • Extremities examination of patients with primary ciliary dyskinesia could demonstrate

Clubbing

References

  1. "Primary Ciliary Dyskinesia | NHLBI, NIH".
  2. "Primary Ciliary Dyskinesia | NHLBI, NIH".


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