Exam 3 Flashcards
term often used to describe related malformations in a particular region and sometimes is used interchangeably with sequence.
Field Defect
True or False
Associated anomalies are more likely to occur in bilateral cleft lip and palate than unilateral clefts
True
- affects teeth distal (posterior to canines)
- can be unilateral or bilateral
- usually occurs because the maxilla is too narrow
- causes maxillary crowding
- can affect tongue position for speech
lateral (posterior) crossbite
- tongue is very large relative to the oral cavity size
- associated with Down’s Syndrome and Beckwith-Wiedeman Syndrome
- Results in
- lingual protrusion
- drooling
- airway obstruction
Macroglossia
tongue stitched to mandible, treatment of upper airway issues
glossopexy
true or false
genes do not make proteins
true
Normal dentition deciduous (baby) teeth
- 20 total
- 10 teeth in each arch
- used to examine chromosomes
- number
- structure
- almost any tissue can be used, e.g., blood, amniotic fluid
- takes about a week to get results
Karyotyping
True or False
More than 350 different syndromes include clefting as one of the presenting conditions
True
name 2 sequences
- Robin sequence
- DiGeorge sequence
True or false
Most congenital anomalies are genetic-based disorders and caused by single gene disorder
True
- a prosthetic appliance to assist infants with cleft palate in feeding
- advantages
- keep tongue from resting inside the cleft
- provides solid surface so tongue can achieve compression of the nipple against it
- disadvantages
- expense
- need to replace due to growth
- keeping it in the infant’s mouth
- irritation of oral mucosa
- most cleft palate centers do not recommend their use
Feeding Obturators
During development, describe how the palate closes (3)
- begins at the incisive foramen
- proceeds forward to form the alveolar ridge then lip
- then backward to form the hard palate and velum
Treatment of upper airway issues includes (6)
- positioning in prone
- nasopharyngeal intubation
- oral orthopedic appliances
- glossopexy
- mandibular distraction treatment
- tracheostomy
- The most common chromosomal abnormality
- Cri du Chat syndrome is an example
Chromosome deletion
one nucleotide replaced by another
substitution
types of mutation (3)
- substitution
- insertion of nucleotide
- deletion of nucleotide
- vertical overlap of lower incisors over upper incisors
underbite (deep bite)
2 ways gene mutations occur
- inherent from parent
- acquired during the lifetime
alveolus and anterior part of the maxilla
premaxilla
- involves posterior teeth (molars)
- unilateral or bilateral-often bilateral with history of cleft palate
- results in a narrow maxillary arch and intra-oral crowding
posterior crossbite
ranges from notch in uvula to extending into velum or part of hard palate
secondary palate incomplete
- tube passed through one naris into the stomach
- syringe used to deliver food through the tube
nasogastric (NG) tube
feeding problems for children with cleft lip and alveolus only (2)
- infant may have initial problems achieving an adequate lip seal on the nipple
- inadequate seal may cause difficulty generating pressure for sucking
How many human genes are there?
20k-25k
such swallow breath typical ratios
1:1:1 or 2:1:1
- entire maxillary arch is inside mandibular arch
- can result in distortion of many sounds, particularly tongue tip sounds
complete crossbite
Why may maintaining an adequate airway be a concern in babies with Robin Sequence?
The hypoplastic mandibe resutls in a U-shaped cleft of the secondary palate. The normal sized tongue interferes with breathing
- mutation on the x chromosome
- affects males more than females
x-linked
- caused by a deletion of the short arm of chromosome 5
- Problems include
- cognitive impairment
- cardiac problems
- facial asymmetry
- hypertelorism
Cri du Chat Syndrome
birth defects induced by exogenous agents
teratogenesis
Feeding problems of children with both cleft lip and palate (3)
- infant will have significant difficulty with all aspects of feeding
- significant nasopharyngeal reflux is also present
- breastfeeding is usually not possible
- due to the channel stenosis/atresia or enlarged adenoids
- causes hyponasality
posterior obstruction of the nasal cavity
turn off proteins
dephosphorylated
shape of DNA
double helical structure (twisted ladder)
Where is most of our DNA?
in the nuclei of all our cells
Where is a place other than the nuclei of our cells that DNA can be found?
mitochondria (mitochondrial DNA)
What copies the protein recipe from the gene?
RNA
- Chromosomes X-shaped
- central narrowing
centromere
gene location specified by (2)
- chromosome #
- arm and band number (or range)
- bind to specific foreign particles such as viruses and bacteria to help protect the body
- ex. immunoglobulin G (IgG)
Antibody
- carry out almost all of the thousands of chemical ractions that take place in cells
- also assist with the formation of new molecules by reading the genetic information stored in DNA
- Ex. Phenylaline, hydoxylase
Enzyme
a cleft or failure to close the eyeball This can result in a keyhole- shaped pupil and/or abnormalities in the retina or optic nerve.
Coloboma
the passages from the back of the nose to the throat that make it possible to breathe through the nose. In children with CHARGE, these passages may be blocked (atresia) or narrowed (stenosis). Surgery can often correct these defects. Multiple surgeries are often required.
Choanae
What do the effects of teratogens depend on? (3)
- potency of the teratogen
- duration of exposure
- when the fetus is exposed
- wedge-shaped
- consists of
- median portion of the prolabium
- alveolus
- anterior portion of the maxilla to the incisive foramen
Primary Palate
location of the upper incisors
alveolus
When does development of the primary palate begin?
7 weeks gestation
through the lip and alveolus to incisive foramen
primary palate (cleft lip) complete
extends from the uvula to the velum through the hard palate to the incisive foramen
secondary palate complete
Which is more frequent clefts of the lip and palate or isolated clefts of the lip or plate?
complete clefts of the lip and palate
Who exhibits clefts of the palate only more, males or females?
females
what percentage of persons with cleft palate have a syndrome?
about 40%
- 2nd most common
- both sutures located across the top of the head from ear to ear close too early
Coronal synotosis
- usually silent, especially in very small neonates
- no loud snoring
- inspiratory stridor not present or intermittent
- high incidence in children with craniofacial anomalies
Obstructive sleep apnea
Anomalies of the external ear (2)
- aural atresia
- micronatia
How is infant oral anatomy different from adult? (6)
- oral cavity is small relative to tongue size
- buccal pads are large
- there are no teeth
- tongue rests anterior to alveolar ridge and contacts lower lip
- temporomandibular joint does not allow much jaw movement
- oral anatomy is well suited for suckling
Upper lip may be short after cleft repair due to: (3)
- basic dysmorphology from the cleft lip
- contractile effects of the scar from the lip repair
- lip shortening due to protruding premaxilla
Patterns of inheritance of mutations (4)
- Autosomal dominant
- Autosomal recessive
- X-linked dominant
- X-linked rrecessive
requires two mutations (one on each autosome)
autosomal recessive
normal teeth that erupt in abnormal positions
ectopic teeth
enzyme matches new nucleotides to the appropriate partner on the DNA
transcription
How many total chromosomes are in each cell?
46
- UES opens for bolus transfer to esophagus
- lower esophageal sphincter opens to allow bolus entrance into stomach
Esophageal phase
tongue base, velum, and posterior pharynx provide driving force for the bolus to transfer to the esphagus
pharyngeal phase
conditions that often affect feding and swallowing (3)
- Pierre Robin sequence
- Moebius syndrome
- hemifacial microsomia
46 total chromosomes in each cell
break down
- 23 pairs
- one chromosome from each parent
- 22 autosomes
- 1 sex chromosome
position of the jaws relative to one another
occlusion
- Primary incisors usually erupt around 12 months of age
- lip repair
- palate repair
- premaxillary orthopedics (for bilateral complete clefts)
- nonsurgical manipulation of the premaxilla and lateral segments
- makes lip repair easier with better results
Treatment at infant stage (0-12 months)
- common in craniofacial anomalies
- central incisors and lateral incisors (if present) often rotated toward the cleft
- if the tooth is in the area of the tongue tip movement, the airstream could be diverted laterally, causing a lateral lisp
- lateral distortion can also occur if there is an attempt to compensate for the position and interference of the tooth
Rotated teeth
- chromosomal syndromes may result from (6)
- deletion of whole chromosomes
- addition of whole chromosomes
- deletion of parts of chromosomes
- addition of parts of chromosomes
- restructured chromosomes
- rearrangements of chromosomes
- orthodontics
- to align the teeth in the arches
- may make occlusion worse until the orthognathic surgery is done
- replacement of missing teeth with denture plate
Treatment at late mixed dentition (9 to 12 years)
Anomalies of the tongue (3)
- macroglossia
- microglossia
- ankyloglossia
treatment for obstructive sleep apnea (2)
- CPAP
- Surgery
opening of the maxillary arch for nerves that is just posterior to the alveolus
incisive foramen
palatal shelves or palatine process that fuse to form the hard and soft palate
secondary palate
- congenital anomaly
- very common
- rarely causes speech problems
- on protrusion, tongue indented in midline and looks heart shaped
- clipping only necessary when:
- feeding/eating affected
- gingiva separates between lower incisors
Ankyloglossia (tongue tie)
prolabium
median portion of the upper lip
a group of related anomalies that generally stem from a single initial major anomaly that alters the development of other surrounding or related tissues or structures.
Sequence