Developmental Anatomy/Disturbances/Disorders 26% 17Q Flashcards
which fontanelle joins frontal and parietal bones
Anterior (Bregma, Coronal suture)
which fontanelle joins the 2 parietal and occipital bones
Posterior (Lambdoid)
in dolicocephalic patients, which suture is likely to have closed early?
Sagittal
in brachycephalic patients, which suture is likely to have closed early?
coronal suture
what is Scaphocephaly?
fusion of the saggital suture
the upper lip is formed by fusion of __________________ process and ________________________
medial nasal
maxillary protuberance
the fusion of medial nasal process and maxillary protuberance happens by week ___
5
the frontonasal process gives rise to two ____________ processes and two ____________ processes
median nasal
lateral nasal
what gives rise to the bridge of the nose, septum of nose, premaxilla, and philtrum
median nasal prominences
what gives rise to the ala of the nose
lateral nasal processes
The primary palate is formed by the ________ week from the 2 medial nasal processes and separates the developing oral and nasal tissues.
As the oronasal cavity expands, the secondary palate is formed between the ___th & ___th week by the two ___________ processes.
6th
6th and 8th
palatal
the palatal processes are part of the ____________ process.
maxillary
The palate closes by week ___ but generally happens by week 7.5-8, marking the end of the __________ period.
12
embryonic period
After the palatal processes have fused they continue to grow further __________, while merging in the midline to form the ________________ and ___________. This process is completed by 12 weeks.
posteriorly
soft palate and uvula
CLP pts have reduced __________ facial height
upper
Alveolar grafting should be performed when 2/3 of the __________ root is formed.
canine
Infants with repaired CLP have deficiency of soft palate and likely _________________ insufficiency
velopharyngeal
Pt with CLP are best retained with retainer and a ____________
pontic
medical term for soft palate
velum
_______________ occurs when speech is affected by an inability to build up intraoral pressure due to communication between the oral and nasal cavity
hypernasality
the incidence of CLP in whites is 1/___
1/800
CLP is most common in which population? Rank these:
white, black, indian, asian
Indian > Asian > White > Black
The probability of CLP when 1 sibling or kin is affected is ___%
4%
The probability of CLP when no sibling but 1 kin is affected is ___%
4%
The probability of CLP when no sibling but 1 parent is affected is ___%
4%
The probability of CLP when 2 siblings are affected is ___%
9%
The probability of CLP when 1 sibling and 1 parent are affected is ___%
17%
the rule for repair of cleft lip is that it happens:
10 weeks, 10 lbs, 10 Hg
cleft lip happens due to failure of fusion of the ________________ and ______________ prominence
median nasal & maxillary prominence
Which is NOT a finding associated with cleft palate:
- Rotated incisors
- Missing laterals
- Ectopic eruption
- Supernumeraries
- Impacted centrals
- Posteriorx-bite
- Impacted centrals
the palate is formed by week ___ in utero
6
repair of cleft palate happens at ___ - ___ months
10 - 18 mo
cleft palate happens due to failure of fusion of the ___________ processes (outgrowth of the maxillary processes)
palatine
in cleft palate repair, tissue scarring leads to ____________ growth
decreased
cleft lip and palate occurs at week ___ - ___
6 - 8
what is more common? cleft lip or cleft palate?
cleft lip
Cervical clefts and diverticula are formed by failure of fusion of brachial ____________
arches
the tongue forms in utero in week ___. The anterior forms from the ___ pharyngeal arch and the posterior portion forms fro the ___ and ___ pharyngeal arch.
4th week
anterior 1st
posterior 3rd and 4th
Hypotelorism occurs due to __________ clefts;
hypertelorism occurs due to _________ clefts.
oro-ocular clefts
midline clefts
Crouzon’s syndrome is associated with what three distinct features?
CrOU
- Craniosynostosis: coronal or lambdoid
- Ocular proptosis: shallow orbits. Crossed (strabismus) and/or wide set eyes
- Underdeveloped midface: receded cheekbones or exopthalmus (bulging eyes)
Patients with Crouzon’s syndrome are subject to visual disturbances; doing a __________ can prevent blindness.
LeFort II (online sources say LeFort III)
In addition to the 3 major features, patients with Crouzon’s syndrome could be subject to cleft ____________.
palate
In patients with Apert’s syndrome, they present with peaked heads and unusual facial appearance. This is due to the associated __________________ where ALL sutures fuse prematurely.
craniosynostosis
Is Crouzon’s syndrome autosomal Domminant?
yes
Apert’s syndrome is autosomal _________
dominant
Which syndrome is due to a mutation of fibroblast growth factor receptor 2.
Apert’s syndrome
The most recognizable clinical appearance of Apert’s syndrome is:
syndactyly - usually the 2nd, 3rd or 4th fingers
In a child with Apert’s syndrome, as growth occurs, the bones in the __________ and ________ become progressively fused, reducing flexibility and function
hands and feet
Apert’s syndrome is associated with buying eyes due to a hypoplastic:
orbital rim
How does Apert’s syndrome affect intellectual development?
The clild may be mentally challenged to varying degrees
a patient with Apert’s syndrome will have cleft __________, ________ stature, and hearing loss/frequent ear infections
palate, short stature
Treatment for Apert’s syndrome include surgery to correct. the skull, especially concerning the _________ suture, mid face and palate. They must also see a _____________ specialist.
coronal
hearing
Treacher collins syndrome is autosomal ___________-
dominant
Symptoms of Treacher collins syndrome include:
- Abnormal to almost completely absent low set ________________
- Abnormal hearing canal with ______________________
- Very small _________ but very large _______________
- Defect in lower _______________, coloboma that extends to lower lid, decreased _______________
- Scalp hair extends onto _________
- Cleft ____________
- Flat cheekbones and facial clefts
8.
- external ears
- conductive hearing loss
- small jaw, large mouth
- eyelid, eyelashes
- cheeks
- palate
- cheekbones
How does Treacher Collins Syndrome affect intelligence?
it does not - normal intelligence
Treacher Collins Syndrome diagnosis with genetic testing for mutations on the __________ gene
- treacle
Treatment for Treacher Collins Syndrome includes correcting _____________ and plastic surgery to affect receding chin and other defects
hearing loss
Cleft lip and palate can cause feeding ____________, __________ development problems, ear ____________
difficulties
speech
infections
The incidence of cleft palate alone is 1 in _____
2500
For cleft patients, lip closure happens at ___ weeks and palate closure happens at ___ year
week 10
1 year
Prenatal __________ consumption decreases the chance of cleft lip/palate by 33%
folate
Which syndrome occurs during development of the oral cavity when the chin does not completely come away from the baby’s chest as it should
Pierre Robin Sequence
Pierre Robin Sequence results in a combination of characteristics including a Small, pushed back _________, large tongue w/ _____________, and a wide, U shaped ____________________
mandible
glossoptosis
cleft of the hard and soft palate
Sometimes, in patients with ____________________, the problem also affects the growth of the trachea and soft tissues of the pharynx, and the baby’s airway can be severely decreased in size or development. Because of the small jaw and large tongue, the airway may become obstructed. Some of these children require a trach or other surgical interventions to increase the airway size.
Pierre Robin Sequence
Cyanosis is common at birth in babies with __________________ syndrome
Pierre Robin Sequence/Syndrome
Gardner’s Syndrome is autosomal _____________
dominant
Which syndrome is caused by a mutation in the APC gene?
Gardner’s Syndrome
In patients with Gardner’s Syndrome, you can find multiple _________ throughout the intestinal tract, extracolonic tumors including osteomas of the skull, thyroid cartilage, epidermoid cysts and fibromas.
polyps
Patients with which syndrome have a higher risk of developing desmoid tumors, abnormalities of the retina, skin tumors, and bone tumors
Gardner’s Syndrome
Is Gardner’s Syndrome associated with facial clefts?
no
Gardner’s Syndrome is associated with _____________ teeth and _____________ radiographic appearance of the jaw
supernumerary
cotton wool
Marfan’s Syndrome is autosomal ___________
dominant
Which syndrome is due to a mutation in the FBNI (fibrillin I) gene?
Marfan’s Syndrome
Name the syndrome associated with a disorder of the connective tissue – the tissue that strengthens the body’s structures. Disorders of CT affect the skeletal, CV, eyes and skin.
Marfan’s Syndrome
Disorders of CT, such as ________________ affect the skeletal, CV, eyes and skin.
Marfan’s syndrome
In patients with Marfan’s syndrome 30% have no family hx and are“sporadic”cases–believed to result from ____________
spontaneous new mutation
Which syndrome is associated with disruption in changes in elastic tissues, particularly the aorta, eye, and skin, as well as overgrowth of the long bones of the body, resulting in tall stature and long limbs.
Marfan’s Syndrome
Patients with Marfan’s syndrome present with long limbs and spiderlike fingers (arachnodactyly), chest abnormalities (pectus excavatum/carinatum), curvature of the spine, and a particular set of facial features including a _________ palate and ____________ teeth.
high, arched
crowded
Patients with ____________ syndrome often have _____________ abnormalities including enlargement (dilation) of the base of the aorta (aortic root), with aortic regurgitation, and mitral valve prolapse and may develop a dissecting aortic aneurysm.
Marfan’s
cardiovascular
Name some characteristics of Marfan’s Syndrome:
see list
How does a patient’s diagnosis of Marfan’s syndrome affects dental care?
Preventive antibiotics before dental procedures to prevent endocarditis
Cleidocranial dysostosis is autosomal _____________
dominant
Cleidocranial dysostosis is characterized by absent or incompletely formed ____________ bones, abnormal shape of skull with depression of the ____________ suture, characteristic facial appearance, short stature, and dental abnormalities
collar
sagittal
Which syndrome is caused by the mutation of RUNX2 gene?
Cleidocranial dysostosis
Cleidocranial dysostosis is characterized by a heavy protruding brow, protruding jaw and wide nasal bridge. Dentally, it is characterized by ____________ eruption and _______________ teeth and peg or abnormal shape.
Delayed
supernumerary
Which condition is characterized by abnormal development of the skin, hair, nails, teeth, and sweat glands?
Ectodermal dysplasia
Ectodermal dysplasia is linked to the ___ chromosome and usually affects ( women / men )
X
men
Due to the lack of _____________ development in children with Ectodermal dysplasia, children may have difficulty controlling fevers. Mild illness may produce extremely high fevers.
sweat glands
Adults with ________________ are unable to tolerate warm environments and need special measures to maintain body temperature
ectodermal dysplasia
In patients with ectodermal dysplasia, the skin is thin with light coloring, the hair is _________, and the teeth develop abnormally and many are missing.
absent or very thin
What is theTx for patients with ectodermal dysplasia?
No specific Tx
Down’s syndrome is a chromosomal abnormality, usually an extra copy of the ___ chromosome. Usually but not always results in mental retardation and other conditions.
21st
The prominent facial features associated with Down Syndrome include
- ___________ nose
- ______________ tongue
- ___________ slanting eyes.
- Inner corner of eye may have _________ fold of skin (epicanthal fold) rather than coming to a point.
- flattened
- protruding
- upward
- rounded
Patients with _____________________ and Hands short and broad hands with short fingers. They often have a single palm crease (simian crease). Retardation of normal growth and development is typical and most never reach average adult height.
Down’s syndrome
For patients with Down’s syndrome, early mortality is frequently caused by:
congenital heart defects
The incidence of Down’s syndrome in the US is 1 in ___
800
Patients with Down’s syndrome commonly have esophageal atresia and duodenal atresia(obstruction). They also have a higher incidence of ALL:
acute lymphatic leukemia
Dentally, Down’s syndrome patients present with:
delayed eruption
Osteogenesis imperfecta is autosomal __________
dominant
Which condition is associated with congenital abnormal fragility of bones? “Brittle bone disease?”
Osteogenesis imperfecta
All 4 types of osteogenesis imperfect are caused by defects in the amount or structure of ___________
Type I collagen
Fragile bones, early hearing loss and blue sclera are the 3 classic signs of:
osteogenesis imperfecta
peutz jeghers syndrome is autosomal _____________
dominant
Which condition is characterized by intestinal polyps and pigmented spots around lips, gums, mucous membranes and skin?
Peutz-Jeghers Syndrome
Which condition is characterized by an increased production of cortisol caused by excessive production of ACTH by the pituitary gland?
Cushing’s Syndrome
Adrenal and pituitary tumors, long term tx with corticosteroids, and female gender can put you at risk for which condition?
Cushing’s syndrome
Symptoms of Cushing’s syndrome include;
- __________ face: round, red, full
- __________ hump: fat btwn shoulders
- Central __________ with protruding abdomen and thin extremities
- Unintentional weight gain
- Moon
- buffalo
- obesity
Hemifacial microsomia occurs ( unilaterally / bilaterally / both )?
both
Hemifacial microsomia affects which anatomical structures?
ear, mouth, mandible
What facial birth defect is second most common after clefts?
hemifacial microsomia
hemifacial microsomia incidence is 1 in ______ - ______
3500 - 4500
hemifacial microsomia is caused by a ____________ problem
vascular
→ leads to clotting and poor blood supply to face
Patients with hemifacial microsomia may have _________ and cervical spine problems
kidney
geographic tongue is more common in ( females / males )
females
what is the most common salivary tumor?
pleiomorphic adenoma
If Autosomal Dominant and non-carrier have a child: ___% the children will be affected
50%
Which gene is responsible for craniosynostoses syndromes: Crouzons, Apert, Pfeiffer, Jackson- Weiss?
FGFR
Wormian bones (abnormal ossicles that develop from extra ossification centers within the cranium) are present in patients with _____________, osteogenesis imperfect and down syndrome
cleidocranial dysplasia
