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Related Concept Videos

Respiratory System Abnormal Finding II: Palpation and Auscultation01:31

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In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
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Atypical Pneumonia01:14

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Atypical pneumonia, often caused by Mycoplasma pneumoniae, is a form of pulmonary infection that differs from the classical presentation of bacterial pneumonia in both its cause and clinical symptoms. Mycoplasma pneumoniae is a pleomorphic bacterium notable for its lack of a rigid cell wall. This structural characteristic imparts resistance to beta-lactam antibiotics and significantly influences the bacterium’s behavior within the human host.Other pathogens responsible for the disease...
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Respiratory System Abnormal Finding I: Inspection and Percussion01:30

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Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
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Chronic pharyngitis refers to persistent inflammation of the pharyngial mucosa.
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Related Experiment Video

Updated: Mar 26, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Pycnodysostosis presenting as atypical stridor.

L Manfredi1, S Marlin2, B Fauroux3

  • 1Service d'ORL et chirurgie cervico-faciale, CHU de Bicêtre, 78, rue du Général-Leclerc, 94276 Le Kremlin Bicêtre, France.

European Annals of Otorhinolaryngology, Head and Neck Diseases
|February 10, 2016
PubMed
Summary
This summary is machine-generated.

Pycnodysostosis, a rare genetic disorder, can cause stridor and airway obstruction in infants. Early genetic consultation is crucial for children with atypical laryngomalacia and failure to thrive.

Keywords:
LaryngomalaciaNoninvasive ventilationOSASPycnodysostosisSnoring

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Area of Science:

  • Genetics
  • Pediatrics
  • Otolaryngology

Background:

  • Pycnodysostosis (OMIM 201775) is a rare autosomal recessive disorder caused by mutations in the cathepsin K gene (CTSK).
  • It is characterized by skeletal abnormalities including osteopetrosis, short stature, bone fragility, and characteristic facial features.
  • While upper airway obstruction is a known complication, stridor has not been previously reported.

Observation:

  • This study reports on three infants (2-18 months) diagnosed with pycnodysostosis who presented with stridor and obstructive sleep apnea syndrome.
  • Clinical findings included laryngomalacia, dysmorphic features, and failure to thrive.
  • All patients required multidisciplinary management for their airway issues.

Findings:

  • Patient 1: Laryngomalacia treated with surgical section of aryepiglottic folds.
  • Patient 2: Severe upper airway obstruction (narrow nasopharynx, long soft palate) managed with surgery and non-invasive ventilation.
  • Patient 3: Moderate laryngomalacia and nasal obstruction treated with surgery and non-invasive ventilation.

Implications:

  • Atypical laryngomalacia associated with multifactorial upper airway obstruction, failure to thrive, and dysmorphic features should prompt consideration of pycnodysostosis.
  • Genetic counseling and testing are essential for early diagnosis and management.
  • This highlights a novel association that expands the clinical spectrum of pycnodysostosis.