Oral Path Exam 3 - Syndromes and Rare Disease Flashcards
Patients with rare diseases often have special health care needs. _____________ features can cause _____________ challenges, leading to reduced motivation and poor self-care. This affects the overall __________ of life.
Dysmorphic; psychosocial; quality
For patients with rare diseases, you should make a special effort to create a ___________ dental experience
positive
Wider (M-L) and shorter (A-P) head. May also have increased head height
Brachycephaly
Due to premature fusion of coronal suture or external deformation (prolonged lying on the back)
Brachycephaly
Longer (A-P) head
Dolichocephaly (scaphocephaly)
Due to premature fusion of the sagittal suture or from external deformation
Dolichocephaly (scaphocephaly)
What conditions?
Autosomal dominant
Cleidocranial dysplasia
Crouzon syndrome
What condition?
Defect of RUNX2 gene
Cleidocranial dysplasia
What is the RUNX2 gene involved in?
Osteoblastic differentiation
Odontogenesis
What condition has the following features of the skull?
Brachycephaly
Frontal bossing
Open fontanels
Wormian bones
Cleidocranial dysplasia
What condition has the following features of the skeleton?
Clavicles are hypoplastic/malformed or absent
Ocular hypertelorism
Cleidocranial dysplasia
What condition has the following features of the mouth?
High, narrow palate +/- cleft
Short lower face height
Delayed/failed eruption
Supernumerary teeth
Cleidocranial dysplasia
What condition has the following tx options?
Protect fontanels - they may remain open or show delayed closure
Cleidocranial dysplasia
What condition has the following tx options?
Tx only the dental problems:
Full mouth extractions/dentures
Removal of primary teeth w/ extrusion of permanent teeth
Cleidocranial dysplasia
What condition?
Also called Treacher Collins syndrome
Mandibulofacial dysostosis
What condition?
Mostly new mutations, but 40% are autosomal dominant
Mandibulofacial dysostosis
What condition?
Variable expressitivity
Mandibulofacial dysostosis
What condition has the following features of the skull?
Bird-like face
Hypoplastic zygoma -> downslanting eyes
Colonomas -> notch in outer lower portion of eyelid
Missing eyelashes
Ear anomalies -> may have hearing deficits
NO cognitive deficit
Mandibulofacial dysostosis
What condition has the following features of the mouth?
Underdeveloped mandible w/ retruded chin
Macrostomia w/ lateral facial clefting
Coronoid and condylar hypoplasia
High palate, some have clefting
Mandibulofacial dysostosis
What condition?
Pharyngeal hypoplasia can lead to respiratory difficulties and death
Mandibulofacial dysostosis
What condition?
Also called craniofacial dysostosis
Crouzon syndrome
What condition?
Due to craniosynostosis (premature closing of sutures)
Crouzon syndrome
What condition?
Possibly caused by a mutation in fibroblast growth factor receptor 2 (FGFR2)
Crouzon syndrome
What condition has the following features of the skull?
Variety of head shape changes (brachycephaly, dolichocephaly, trigonocephaly)
Due to craniosynostosis
Digital markings (beaten metal)
Increased intracranial pressure
Crouzon syndrome
What condition has the following features of the face?
Hypertelorism (eyes far apart)
Stabismus (eyes not tracking together)
Ocular proptosis due to shallow orbits
Maxillary hypoplasia
Crouzon syndrome
What condition has the following features of the mouth?
High, narrow palate
Class III malocclusion
Crouzon syndrome
What condition has the following tx options?
Correct stabismus early to prevent blindness
Open sutures to prevent retardation (uncommon to see mental deficiency tho)
Midface advancement
Crouzon syndrome
