Oral Diagnosis Series: Developmental Problems Involving Maxilla and Mandible

Introduction

• Presenter: Dr. Ryan
• Focus: Developmental issues related to the maxilla and mandible, particularly the jawbones.
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Key Conditions Involving Maxilla and Mandible

1. Macronathia

• Definition: Abnormally large jaw, often the mandible.
• Associations:
  • Pituitary gigantism
  • Tumors
  • Macrodontia (big teeth)
  • Macroglossia (big tongue)
• Treatment: Orthognathic surgery

2. Micronathia

• Definition: Abnormally small jaw, specifically the mandible.
• Associated Conditions: Hemifacial microsomia, Treacher-Collins syndrome.
• Impact: Can affect speaking, eating, breathing.

3. Anathia

• Definition: Congenital absence of one or both jaws.
• Cause: Disruption of the development of the first branchial arch.
• Prognosis: Better with acute airway management and treatment.

Specific Craniofacial Conditions

Hemifacial Microsomia

• Description: Underdevelopment of one side of the face.
• Prevalence: Second most common facial birth defect after cleft lip/palate.
• Cause: Inadequate migration of neural crest cells.
• Features:
  • Deficient mandible and muscles
  • Microtia (small ear)
  • Crossbite, crowding on affected side

Hemifacial Hypertrophy

• Description: Overdevelopment of one side of the face.
• Associations: Beckwith-Weidman syndrome, macrodontia, macroglossia.
• Differentiation: Specific to the face, unlike hemihyperplasia which affects the entire body.

Treacher-Collins Syndrome

• Cause: Genetic mutation (autosomal dominant) affecting neural crest cells.
• Features:
  • Underdeveloped mandible
  • Drooping facial features
  • Microtia
  • Increased chance of cleft palate

Epert Syndrome

• Cause: Genetic (autosomal dominant).
• Features:
  • Craniosynostosis (early skull bone fusion)
  • Intellectual disability
  • Frontal bossing (prominent forehead)
  • Hypertelarism (wide-spaced eyes)
  • Cleft palate in some patients
  • Syndactyly (webbed digits)

Crouzon Syndrome

• Cause: Genetic (autosomal dominant craniosynostosis syndrome).
• Features:
  • Similar to Apert syndrome but less severe
  • No digital anomalies or intellectual disability
  • Craniosynostosis, frontal bossing, underdeveloped maxilla
  • Hypertelarism, proptosis

Closing Remarks

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This lecture covered essential developmental issues associated with the maxilla and mandible, helping to understand various craniofacial syndromes and their impact on facial development.