2. Syndromes Flashcards
What is the triad of Pierre Robin Sequence?
-
U-shaped Cleft Palate
- Classicly it appears as a fissure
-
Mandibular Retrognathia
- Underdeveloped and small mandible
- Class II
-
Glossoptosis
- Airway obstruction by lower displacement of the tongue
What is the treatment for Pierre Robin Sequence? (4)
- CP Repair
- Prevent Airway Blockage - don’t lay baby flat
- Pt will outgrow mandibular hypoplasia - jaw catches up
- Follow for the development of Stickler Syndrome
- Persistent micrognathia and retinal detachment leading to blindness
- When the jaw doesnt catch up
What causes Brachycephaly?
Head = Wider and Shorter
- Premature fusion of coronal suture
- External deformation - prolonged lying on back
What causes Dolichocephaly (Scaphocephaly)?
Longer Head
- Premature fusion of sagittal suture
- External deformation
What is the etiology of Cleidocranial Dysplasia?
- Autosomal Dominant in most cases
- Defect in the RUNX2 gene involved in osteoblastic differentiation and odontogenesis
What are the clinical features of the skull in Cleidocranial Dysplasia? (4)
- Brachycephaly
- Frontal bossing
- Open fontanels
- Wormian bones
What are the clinical skeletal features in Cleidocranial Dysplasia? (2)
- Clavicles = hypoplastic, malformed or absent
-
Ocular Hypertelorism
- Widely spaced eyes
What are the clinical oral features of Cleidocranial Dysplasia? (3)
- High, narrow palate with or without clefting
- Delayed or failed eruption or teeth
- Supernumerary teeth
What is the pathogenesis of Crouzon Syndrome?
Craniosynostosis
Premature fusion of sutures
What is the etiology of Crouzon Syndrome?
- Autosomal Dominant
- Possibly caused by a FGFR2 mutation
- Fibroblast Growth Factor Receptor 2
What are the clinical features of the skull in Craniofacial Dysostosis? (3)
- Variety of head shape changes, due to craniosynostosis
-
Digital markings, “beaten metal”
- Brain presses on the skull, leaving an impression in the bone
-
Increased intracranial pressure
- The sutures fuse early so the brain has no where to go
What are the clinical facial features of Crouzon Syndrome? (3)
- Hypertelorism
- Strabismus“wandering eye”
-
Ocular Proptosis
- Due to midface deficiency/maxillary hypoplasia
What are the oral features of Crouzon Syndrome? (2)
- High arched, narrow palate
- Class III malocclusion
What is the treatment for Craniofacial Dysostosis? (3)
- Correct striabismus early (< 3yrs old) or blindness can occur
-
Open sutures to prevent retardation
- Uncommon to see marked mental deficiency
-
Mid-face advancement
- To help with Class III malocclusion
What does Treacher-Collins Syndrome mostly effect?
Mandible
aka Mandibulofacial Dysostosis
What is the etiology of Treacher-Collins Syndrome?
- Mostly new mutations
- Autosomal Dominant in 40%
Variable expressivity
What are the clinical features of the skull and face in Treacher-Collins Syndrome? (6)
-
Bird-like face
- Facial features are constricted together
- Hypoplastic Zygoma –> downslanting eyes
- Colobomas = orbital rim defect, notch in lower outer eyelid
- Missing eyelashes
- Ear anomalies - may having hearing deficits
- No Retardation
What are the oral features associated with Treacher-Collins Syndrome? (5)
- Class II malocclusion
- Macrostomia
- Coronoid and condylar hypoplasia
- High arched palate, some have clefting
-
Pharyngeal Hypoplasia
- Can lead to respiratory difficulties and death
Which etiology of Down Syndrome is seen in moms younger than 25 yrs?
Translocation (3%)
- 46 chromosomes
- The extra one attaches to another one
Which etiology of Down Syndrome causes the phenotypic features to not be as dramatic?
Mosaicism
- 2 cell lines = 46 chromosomes + 47 chromosomes
What etiologies of Down Syndrome are usually associated with a mother that is older than 35-40 yrs?
Typical trisomy 21
Mosaicism
What are the general features of Down Syndrome? (7)
- Flat face
-
Eye features:
- Small palpebral fissures (eyes closed down)
- Epicanthal folds
- Up-slanting eyes
- Mental retardation
- Simian crease = prominent horizontal line through the middle of the palm
- Wide space between 1st (big toe) and 2nd toes
- Friendly disposition
- Delayed sexual development
What medical concerns should we have for pts with Down Syndrome? (3)
- Congenital heart defects later in life
-
Abnormal immune response:
- Lung infection
- Thyroid autoimmunity
- Severe generalized periodontal disease
- Increased risk for Acute Leukemia
What are the clinical oral features of Down Syndrome? (4)
- Macroglossia
- Fissured tongue
- Tooth malformation
-
Severe generalized periodontal disease
- Due to their immune deficient state
What are the common clinical features of both types of Oral - Facial - Digital Syndrome? (7)
- Multiple frenula
-
Midline cleft of upper lip
- Normally seen over lateral incisor
- Clefted and lobulated tongue
- Missing teeth
- Brachydactyly - shortened digits
- Hexadactyly - 6 fingers
- Polysyndactyly of halluces - 2 big toes and they are fused together
What is the etiology of OFD-1?
X-linked Dominant
What population is affected in OFD-1?
Only in females
Lethal in males
What are the clinical features exclusive to OFD-1? (4)
- Absent lateral incisors
- Multiple fibrous oral bands cuasing clefts in alveolus
- Mild mental retardation
- Palatal clefting more common!!!
What is the etiology of OFD-2?
Autosomal Recessive
Seen in males and females
What is the unique clinical feature to OFD-2?
Bilateral hexadactyly and polysyndactyly of halluces
What is the etiology of Marfan Syndrome?
- Autosomal Dominant
- Mutation in fibrillin 1
- Important component of elastic fibers
What are the skeletal clinical features of Marfan Syndrome? (4)
- Slender, elongated features
- High arched palate
- Hyper-extensible joints
- Deformed chest - caved in or sticking out
What ocluar changes occur in Marfan Syndrome? (2)
- Dislocation of lens
-
Retinal detachement
- Also seen in Stickler Syndrome
What are the cardiovascualr implications of Marfan Syndrome? (2)
-
Aortic Aneurysm and Dissection
- Most common cause of death
- Cardiac Valve Regurgitaion
What is the treatment for Marfan Syndrome?
- Treat the cardiac conditions (hypertension and valve problems) to prevent Aortic Aneurysms
