Craniosynostosis Overview
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Questions and Answers

What is a primary issue associated with Anodontia?

  • Nutritional deficiency
  • Increased cavity risk
  • Improper dental alignment (correct)
  • Enamel hypoplasia

    • What genetic condition is commonly associated with Anodontia?

  • Cleft palate
  • Ectodermal dysplasia (correct)
  • Marfan syndrome
  • Down syndrome

    • What characterizes an Anterior Cleft Palate?

  • Incomplete fusion between the intermaxillary segment and maxillary prominences (correct)
  • Fusion of secondary palates
  • Failure of palatine shelves to fuse
  • Presence of a cleft uvula

    • What type of cleft results from non-fusion of the palatine shelves of the maxillary prominences?

    <p>Cleft (secondary) palate</p> Signup and view all the answers

    What is the prevalence of cleft lip in births?

    <p>1 in 1000</p> Signup and view all the answers

    What is the primary cause of craniosynostosis?

    <p>Premature closure of cranial sutures</p> Signup and view all the answers

    Which of the following terms refers to a collection of symptoms frequently occurring together due to a single cause?

    <p>Syndrome</p> Signup and view all the answers

    What is the typical closure date for the anterior fontanelle?

    <p>13-24 months</p> Signup and view all the answers

    Which craniofacial disorder is characterized by underdevelopment of the orofacial region and is caused by genetic mutations?

    <p>Treacher Collins Syndrome</p> Signup and view all the answers

    Which type of treatment is commonly used for craniosynostosis?

    <p>Postoperative helmet therapy</p> Signup and view all the answers

    What is the likelihood of finding identifiable genetic mutations in patients with craniosynostosis?

    <p>20-30%</p> Signup and view all the answers

    What is associated with high intracranial pressure in craniosynostosis?

    <p>Abnormal head shape</p> Signup and view all the answers

    Which biological cells are primarily impacted in conditions like Treacher Collins Syndrome?

    <p>Neural crest cells (NCC)</p> Signup and view all the answers

    What typically connects the cervical sinus to the pharynx in the case of an internal branchial fistula?

    <p>Ruptured membrane</p> Signup and view all the answers

    Which of the following syndromes is commonly associated with Pierre Robin Sequence?

    <p>Craniofacial microsomia</p> Signup and view all the answers

    What is the mechanism that leads to glossoptosis in Pierre Robin Sequence?

    <p>Micrognathia causing tongue displacement</p> Signup and view all the answers

    In craniofacial microsomia, which factor is primarily responsible for the asymmetric malformation?

    <p>Abnormal vasculature or hemorrhaging</p> Signup and view all the answers

    What are the potential additional symptoms associated with craniofacial microsomia?

    <p>Cardiac and neurological defects</p> Signup and view all the answers

    Which treatment is commonly recommended for individuals with supernumerary teeth?

    <p>Extraction</p> Signup and view all the answers

    What is a leading cause of supernumerary teeth initiation?

    <p>Familial genetic traits</p> Signup and view all the answers

    What is a common treatment outcome for reconstructive surgery in craniofacial microsomia?

    <p>High rates of recurrence</p> Signup and view all the answers

    What is a common presentation feature of 22q11.2 Deletion Syndromes related to facial structures?

    <p>Hypoplasia of facial bones</p> Signup and view all the answers

    What type of surgical intervention is typically required for individuals with cleft palate?

    <p>Corrective surgery based on maturation</p> Signup and view all the answers

    Which gene is significantly affected in 22q11.2 Deletion Syndromes?

    <p>TBX1</p> Signup and view all the answers

    What is a common result of ankyloglossia?

    <p>Restrictive tongue movement</p> Signup and view all the answers

    What condition is characterized by a failure to close the pharyngeal clefts, specifically noted in pharyngeal cleft 2?

    <p>Branchial cleft fistula</p> Signup and view all the answers

    Which of the following is a typical treatment for individuals with calcium deficiency due to thymus underdevelopment in 22q11.2 Deletion Syndromes?

    <p>Calcium supplements</p> Signup and view all the answers

    What is the primary surgical intervention for managing a thyroglossal cyst?

    <p>Sistrunk procedure</p> Signup and view all the answers

    What sensory-related issue might individuals with 22q11.2 Deletion Syndromes experience?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Study Notes

    Craniosyntosis

    • Premature closure of cranial sutures
    • Occurs in 1/2,500 births
    • Can be isolated or a part of a syndrome
    • Results in:
      • Abnormal head shape
      • Increased pressure on the brain (intracranial pressure) that can impact neural development

    Sutures & Fontanelles

    • Sutures – where 2 bones meet

    • Fontanelles – where 3+ bones meet

    • Allow movement of skull bones during birth

    • Remain open for brain growth

                                    ### Fontanelle Location              Closure Date

    • Anterior Frontals & Parietals 13–24 months

    • Posterior Parietals & Occipital 1–2 months

    • Mastoid Parietal, Temporal, & Occipital 6–18 months

    • Sphenoid Sphenoid, Parietal, Temporal, Frontal 6 months

    Craniosyntosis: Etiology

    • Genetic mutations (identified in 20–30% of patients)
    • Environmental factors play a likely role

    Craniosyntosis: Mechanism

    • Neural crest cells (NCC) - mesoderm derived cell boundary disintegration
    • Abnormal cell specification
    • Premature loss of mesenchymal stem cells

    Craniosyntosis: Treatment

    • Surgical intervention (high risk)
    • Postoperative helmet therapy (maintenance)

    Treacher Collins Syndrome

    • Autosomal dominant genetic disorder
      • Caused by mutation in TCOF1, POLR1D, POLR1B, POLR1C genes
      • Often a new mutation
      • Occurs in 1/50,000 births
    • Hypoplasia (underdevelopment) of the orofacial region
    • Highly variable presentation

    Treacher Collins Syndrome: NCC Defect

    • Reduction in the number of neural crest cells (NCC)
    • Neural crest cells form:
      • Viscerocranium
      • Cartilage, bone, dentin, tendon, dermis, sensory neurons, glandular connective tissue

    Treacher Collins Syndrome: Presentation

    • Hypoplasia of facial bones
      • Mandible, maxilla, zygomatic
    • Cleft palate
    • External & internal ear defects
      • Conductive hearing loss
    • Eye defects
      • Coloboma, palpebral fissure angle, eyelid droop, vision issues
    • Tooth defects
    • Respiratory issues – tongue obstruction

    Treacher Collins Syndrome: Treatment

    • Hearing aids
    • Corrective surgery
      • Urgent respiratory surgical needs
      • Varying ages for palate, facial, ear, and tooth based on maturation

    22q11.2 Deletion Syndromes

    • Deletion of long arm (q-arm) of chromosome 22
      • Occurs in 1/4,000 births
      • Occurs during meiotic rearrangements
    • Affects TBX1 gene
      • Expressed in all germ layers of the pharyngeal arches (PA)
      • Communicates with neural crest cells (NCCs)
    • Highly variable presentation

    22q11.2 Deletion Syndromes: Mechanism

    • Significant impact on 3rd & 4th pharyngeal pouches
      • Hypoplasia or lack of thymus & parathyroid glands
      • Remodeling of pharyngeal arteries
    • Affects mesenchyme- epithelial interactions
    • Significant impacts on cortical brain development

    22q11.2 Deletion Syndromes: Presentation

    • Heart defects
    • Palatal abnormalities
    • Facial anomalies
    • Immunodeficiency
    • Learning & behavioral disabilities
    • Speech and hearing deficiencies
      • Frequent ear infections
    • Increased risk of psychiatric disorders

    22q11.2 Deletion Syndromes: Treatment

    • Surgical repair
    • Aggressive infection treatment
    • Calcium supplements
    • Therapy and educational support

    Ankyloglossia (Tongue-Tied)

    • Frenulum extends to the apex of tongue
      • Absence of normal cell degeneration
    • Restricts tongue movement
    • Typically stretches
      • Therapy
      • Surgical removal

    Thyroglossal Cyst

    • Remnant of thyroglossal duct
      • Can occur anywhere along thyroid migration path
        • Commonly near hyoid
      • Occurs in the midline
    • Infection
      • Low risk of cancer
    • Sistrunk procedure
      • Low rate of recurrence

    Branchial Cleft Fistulas/Cysts

    • Failure to close pharyngeal clefts
      • Most common pharyngeal cleft 2
    • Fistula opens anterior to the sternocleidomastoid
    • Cyst – just below the angle of the mandible
      • Often enlarges during childhood

    Internal Branchial Fistula

    • Rupture of membrane between the pharyngeal cleft & pouch
    • Cervical sinus connected to pharynx
    • Typically drains into the tonsillar fossa

    Pierre Robin Sequence

    • Impacts 1st pharyngeal arch (PA) structures
    • Genetic or environmental onset
      • Idiopathic origin
        • Isolated Robin Sequence associated with chromosomal mutations
    • Occurs in 1/8,500 births
    • Often occurs with other syndromes/anomalies

    Pierre Robin Sequence: Mechanism

    • Micrognathia (small jaw) → tongue displacement → obstructed closure of palatine shelves

    • Theories:

      • Abnormal mandibular growth
      • Tongue neuromuscular delay
      • Mandibular compression

    Pierre Robin Sequence: Symptoms

    • Micrognathia (small jaw)
    • Glossoptosis: tongue obstructing the posterior pharynx and airway
    • Cleft palate

    Pierre Robin Sequence: Treatment

    • Prone positioning
    • NPA – Nasopharyngeal airway tube
    • Surgical intervention

    Craniofacial (Hemifacial) Microsomia

    • Asymmetric malformation of 1st & 2nd pharyngeal arches (PAs)
      • Typically unilateral, can be bilateral
    • Hypoplasia of the face, ear, eye, teeth, cranial nerves
    • Environmental factors, maternal intrinsic factors, genetic mutations
      • Occurs in 1/3,500 – 4,500 births

    Craniofacial (Hemifacial) Microsomia: Pathogenesis

    • Abnormal vasculature or hemorrhaging
      • Insufficient blood supply to the face
      • Stapedial artery
    • Teratogen exposure
    • Genetic component
    • Disrupted mesenchymal communication

    Craniofacial (Hemifacial) Microsomia: Presentation

    • Lack of defined criteria/ high variability in phenotype
      • Eliminating alternative diagnoses
    • Minimum:
      • Ipsilateral mandibular and ear dysmorphia
      • One of the following + 2 additional unrelated anomalies
        • Ocular deformities
        • Extracranial defects: cardiac, neurological, skeletal
      • Family history

    Craniofacial (Hemifacial) Microsomia: Treatment

    • Surgical intervention
      • Functional first
      • Reconstructive
      • Surgery mixed results
        • Determined by the extent of hypoplasia
        • High rates of recurrence

    Supernumerary Teeth

    • Disruption of initiation stage (tooth development)
    • Typically singular
      • Typically posterior to the maxillary incisors
    • Issues:
      • Crowding/displacement
      • Failure to erupt
      • Malocclusion

    Supernumerary Teeth: Mechanism

    • Localized hyperactivity of the dental lamina
      • Genetic & environmental factors
    • Family history increases risk
    • Often related to additional syndromes
    • Treatment: extraction

    Anodontia

    • Disruption of initiation stage
    • Rarely complete
    • Issues:
      • Malocclusion
      • Speech impediment
      • Aesthetics
        • Downstream effects of treatment

    Anodontia: Mechanism

    • Rarely isolated, typically part of a syndrome
    • Defect of the dental lamina
      • Local, systemic, or genetic
      • Strong familial inheritance
    • Ectodermal dysplasia
    • Treatment: nothing or prosthetics

    Facial Clefts: Cleft Palate/Cleft Lip

    • Common craniofacial defects
    • Difficulties with speech
    • Genetic & nongenetic factors
    • Cleft palate - incisive foramen
      • Border between anterior & posterior clefts
      • Can be a combination
    • More common in males (1/1,000 births)

    Facial Clefts: Anterior Cleft Palates

    • Incomplete fusion between the intermaxillary segment and maxillary prominences
    • Types:
      • Lateral cleft lip
      • Cleft upper jaw
      • Between primary and secondary palates

    Facial Clefts: Posterior Cleft Palates

    • Non-fusion of palatine shelves of maxillary prominences
      • Too small
      • Failure of tongue to drop
      • Failure to elevate
      • Disrupted fusion process
    • Types:
      • Cleft (secondary) palate
      • Cleft uvula

    Facial Clefts: Cleft Lip

    • Unilateral or bilateral
      • Bilateral – separates the intermaxillary segment from the oral cavity
        • Defective orbicularis oris (muscle that closes the mouth)
    • Cleft Lip with Bilateral Defects: separates the intermaxillary segment from the oral cavity, defective orbicularis oris

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    IBSSD Development Disorders Student Notes PDF

    Description

    This quiz delves into craniosynostosis, its etiology, and the mechanisms behind premature closure of cranial sutures. Learn about the implications for neural development, head shape abnormalities, and the relevant anatomical features. Test your understanding of this critical topic in cranial health.

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