Exam 3 - Diseases and Rare Syndromes Flashcards
Patient with rare disease often have __________ __________ _______ _________.
Dysmorphic feature can cause ________ challenges leading to reduced motivation and poor self-care.
Affect quality of life and multiple organ systems requiring specialized, ____________ oral health care.
Patient with rare disease often have special health care needs.
Dysmorphic feature can cause psychosocial challenges leading to reduced motivation and poor self-care.
Affect quality of life
and multiple organ systems requiring specialized, multidisciplinary oral health care.
Wider (M-L) and shorter head (A-P). May also have increased head height.
Brachycephaly
Brachycephaly is due to premature fusion of the _____ suture or external deformation (prolonged lying on the back)
coronal
__________ is due to premature fusion of the coronal suture or external deformation (prolonged lying on the back)
Brachycephaly
Longer head AP
Dolichocephaly (Scaphocephaly)
____________ is due to the premature fusion of the sagittal suture of from external deformation.
Dolichocephaly (Scaphocephaly)
Dolichocephaly (Scaphocephaly) is due to the premature fusion of the _______ suture of from external deformation.
sagittal
Name the syndrome/disease
Autosomal Dominant
Defect of the RUNX2 gene involved in osteoblastic differentiation and odontogenesis
Cleidocranial Dysplasia
Cleidocranial Dysplasia: Autosomal Dominant
Defect of the RUNX2 gene involved in _____________ differentiation and _____________.
osteoblastic; odontogenesis
Clinical Presentation of Cleidocranial Dysplasia
Skull (4 things)
Skeleton (2 things)
Oral (4 things)
Skull
1. Brachycephaly
2. Frontal Bossing
3. Wormian bones - excessive suture lines surrounding
bones in the skull
4. Open fontanels
Skeleton
1. Clavicle are hypoplastic/malformed or absent
2. Ocular hypertelorism (eye spread apart)
Oral
1. Short lower face height
2. Delayed/failed eruption
3. Supernumerary teeth
4. High, narrow palate +/- clefting
Clinical Presentation of Cleidocranial Dysplasia
Skull (4 things)
- Brachycephaly
- Frontal Bossing
- Wormian bones - excessive suture lines surrounding
bones in the skull - Open fontanels
Clinical Presentation of Cleidocranial Dysplasia
Skeleton (2 things)
- Clavicle are hypoplastic/malformed or absent
- Ocular hypertelorism (eye spread apart)
Clinical Presentation of Cleidocranial Dysplasia
Oral (4 things)
Oral
1. Short lower face height
2. Delayed/failed eruption
3. Supernumerary teeth
4. High, narrow palate +/- clefting
Name the syndrome/disease
Mostly new mutations
40% Autosomal dominant
Variable expressivity
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Clinical Presentation of Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Skull/Face (6 things)
Oral (4 things)
Skull/Face
1. Bird-like face (facial feature crunched together)
2. Hypoplastic zygoma - downslanting eyes
3. Colobomas - specifically a notch in outer lower outer portion of the eyelid
4. Missing eyelashes
5. Ear anomalies, may have hearing deficits – may be lower set than normal
6. NO cognitive deficit
Oral
1. Underdeveloped mandible with retruded chin
2. Macrostomia (with lateral facial clefting)
3. Coronoid and condylar hypoplasia
4. High arched palate some have clefting
Pharyngeal hypoplasia can lead to respiratory difficulties and lead to death. (b/c narrow)
Clinical presentation Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Skull/Face (6 things)
1. Bird-like face (facial feature crunched together)
2. Hypoplastic zygoma - downslanting eyes
3. Cobolomas - specifically a notch in outer lower outer portion of the eyelid
4.
5.
6.
- Missing eyelashes
- Ear anomalies, may have hearing deficits – may be lower set than normal
- NO cognitive deficit
Clinical presentation Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Skull/Face (6 things)
1.
2.
3.
4. Missing eyelashes
5. Ear anomalies, may have hearing deficits – may be lower set than normal
6. NO cognitive deficit
- Bird-like face (facial feature crunched together)
- Hypoplastic zygoma - downslanting eyes
- Cobolomas - specifically a notch in outer lower outer portion of the eyelid
Clinical presentation Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Skull/Face (6 things)
- Bird-like face (facial feature crunched together)
- Hypoplastic zygoma - downslanting eyes
- Cobolomas - specifically a notch in outer lower outer portion of the eyelid
- Missing eyelashes
- Ear anomalies, may have hearing deficits – may be lower set than normal
- NO cognitive deficit
Name the disease/syndrome
Skull/face
1. Birdlike face (face scrunched together)
2. hypoplastic zygoma
3. Cobolomas
4. Missing eyelashes 5. Ear anomalies- hearing deficit lower set ears than normal
6. NO cognitive deficits
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Name the disease/syndrome
Oral
1. Underdeveloped mandible with retruded chin
2. Macrostomia (with lateral facial clefting)
3. Coronoid and condylar hypoplasia
4. High arched palate some have clefting
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Clinical presentation Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Oral (4 things)
- Underdeveloped mandible with retruded chin
- Macrostomia (with lateral facial clefting)
- Coronoid and condylar hypoplasia
- High arched palate some have clefting
Name the syndrome/disease this can happen in.
Pharyngeal hypoplasia can lead to respiratory difficulties and lead to death. (b/c narrow)
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
What is the etiology of Mandibulofacial Dysostosis (Treacher Collins Syndrome)?
Mostly new mutations
40% Autosomal dominant
Name the disease/syndrome
Autosomal Dominant
Possible caused by a mutation in fibroblast growth factor receptor 2 (FGFR2)
Due to premature closing of the sutures = craniosynostosis
Crouzon Syndrome (Craniofacial dysostosis)
Etiology of Crouzon Syndrome (Craniofacial dysostosis)
Autosomal Dominant
Possible caused by a mutation in fibroblast growth factor receptor 2 (FGFR2)
due to closing of the sutures = craniosynostosis
Name the disease/syndrome
Possible caused by a mutation in fibroblast growth factor receptor 2 (FGFR2)
Name the disease/syndrome
due to closing of the sutures = craniosynostosis
Crouzon Syndrome (Craniofacial dysostosis)
Clinical Presentation Crouzon Syndrome (Craniofacial dysostosis)
Skull (2 things)
Face (4 things)
Oral (2/3 things)
Skull
1. Variety of head shape changes due to craniosynostosis
Brachycephaly, dolichocephaly or trigonocephaly (triangle shaped)
2. Digital markings (beaten metal)
3. Beaten metal - gyri impressing against the skull
Face
1. Hypertelorism - eyes far apart
2. Strabismus - eyes do not track together
3. Ocular proptosis due to shallow orbits - buggy eyes
4. Maxillary hypoplasia
Oral
1. Maxillary hypoplasia
2. Class III malocclusion
3. High arched/narrow Palate
Clinical presentation Crouzon Syndrome (Craniofacial dysostosis)
Skull (2 things)
Skull
1. Variety of head shape changes due to craniosynostosis
Brachycephaly, dolichocephaly or trigonocephaly (triangle shaped)
2. Digital markings (Beaten metal - gyri impressing against the skull)
Clinical presentation Crouzon Syndrome (Craniofacial dysostosis)
Face (4 things)
Face
1. Hypertelorism - eyes far apart
2. Strabismus - eyes do not track together
3. Ocular proptosis due to shallow orbits - buggy eyes
4. Maxillary hypoplasia
Clinical presentation Crouzon Syndrome (Craniofacial dysostosis)
Oral (2/3 things)
Oral
1. Maxillary hypoplasia
2. Class III malocclusion
3. High arched/narrow Palate
Name the syndrome/disease
- Hypertelorism
- Strabismus
- Maxillary hypoplasia
- Class III malocclusion
Crouzon Syndrome (Craniofacial dysostosis)
Name the syndrome/disease
digital markings
Crouzon Syndrome (Craniofacial dysostosis)
Name the syndrome/disease
High arched/narrow Palate
Class III malocclusion
Crouzon Syndrome (Craniofacial dysostosis)
How do you tx Crouzon Syndrome (Craniofacial dysostosis)?
Correct strabismus early (<3 yrs) or blindness can occur
Open suture/fontanels to prevent retardation (it is uncommon to see marked mental deficiency)
Midface advancements which should decrease proptosis
How do you tx Cleidocranial Dysplasia
Protect fontanels - because they often remain open or show delayed closure
Treat only the dental problems - Full mouth ext/dentures
Removal of primary teeth with extrusion of permanent teeth
