Developmental Defects I Flashcards
Proliferation of ectomesenchyme adjacent to placodes results in
Medial and lateral nasal processes
At what week when we see medial and lateral nasal processes
4th
At what week do we see the nasal pla code
4th
At what week do we see the nasal pit
4th
The nasal pit is the depression between
Medial and lateral nasal processes
What makes up the upper lip
Medial nasal processes merge with each other and max Larry processes
What makes up the alae of nose
Lateral nasal processes
At what week do we see the formation of the upper lip
6th-7th
At what week do we see the alae of the nose
6th-7th
During the 6/7th week of development, the medial nasal processes merge to become
Primary palate
During the 6th/7th week of development, medial projection of maxillary processes forms the
Secondary palate
At what week does the tongue descend
6th/7th
What week do the palatal shelves rotate to horizontal
6th-7th
The anterior aspect of the palatal shelves fuse during
8th week
During the eighth week, the palatal shelves fuse with
Primary palate and nasal septum
When is the fusion of the palate complete
12th week
Overall the highly sensitive period for cleft lip occurs in
5th-6th week
Teratogens could affect the upper lip during
6th-8th week
Defect of a cleft lip
Defective fusion of medial nasal process with maxillary process
Defect of cleft palate
Defective fusion of palatal shelves
Which combination of cleft lip and cleft palate has the highest incidence
Cleft lip with cleft palate
What percentage of oral facial cliffs is a combination of CL + CP
45%
Cleft palate only is what percentage of cases
30%
Cleft lip only is what percentage of cases
25%
True/false: the majority of cleft lips are Unilateral and appear on the right side
False. The majority of cleft lips are unilateral and appear on the left side
Percentage of cleft lips will appear on the left side
70%
Cleft lip involving maxillary alveolus will likely occur between
Lateral incisor and canine
A cleft that extends into nostril is
Complete cleft lip
A cleft that has no nostril involvement is
Incomplete cleft lip
True false: a cleft lip involving the alveolus could result in missing teeth or supernumerary teeth
True
Cleft palates that have no hard palate clefting
Bifid uvula and submucus palatal cleft
Minimal manifestation of cleft palate
Bifid uvula
Submucous palatal cleft involves
Soft tissue defect, musculature of soft palate, notching of palatal bone. No true clefting
Which syndrome has the following clinical features: mandibular micrognathia, cleft palate, glossoptosis
Pierre robin sequence
Etiology of Pierre Robin sequence
Constraint of mandibular growth in utero by oligohydroamino (amniotic fluid). Results in failure of tongue to descend and the posterior displacement of tongue.
Primary surgeries for oral facial clefts
Primary lip closure, pallet over repair, molding/expansion of Maxilla, bone grafting.
Secondary: soft tissue repair.
If a first-degree relative was affected by an oral facial cleft, the risk is
10-20%
Without a first-degree relative affected, the risk is
3-5%
Truffles: patients with a syndromic cleft have a higher chance than non syndromic of their siblings or offsprings also having one
True
Lateral facial cleft defect
Defective fusion of maxillary and mandibular processes
Lateral Facial cleft can cause macrostomia when
Left from Commissure to ear
Oblique facial cleft etiology 
Defective fusion of lateral nasal process with maxillary process
Oblique facial cleft clinical features
Cleft from upper lip to eye
Median facial cleft etiology
Defective fusion of medial nasal processes
Median facial cleft clinical feature
Cleft of upper lip, midline
Commissural lip pits etiology
Unknown
Site of commissural lip pits
Corners of mouth. Unilateral or bilateral
Commissural lip pits size
Small invagination (blind pit) 1 to 4mm in depth
Congenital lip pits is also known as
Paramedian lip pits
Which lip pit is congenital only
Paramedian
Site of paramedian lip pit
Either side of midline lower lip. Bilateral
Depth of paramedian lip pit
1.5mm
Paramedian lip pit could be a component of what syndrome
Van der woude syndrome, popliteal Pterygium syndrome, kabuki syndrome
van der woude syndrome etiology
Mutation in gene that encodes for interferon regulatory factor 6. Autosomal dominant with variable expressivity
Clinical features of Van der Woude syndrome
Paramedian lip pit, cleft lip and/or cleft palette
Most common form of syndromic clefting
Van Der woude syndrome
True false: double lip etiology is exclusively acquired
False. Congenital or acquired
Double lip occurs most frequently on
Upper lip
Double lip shows a double lip when
Smiling
Double lip is one of the clinical features of
Ascher syndrome
Clinical features of Ascher syndrome
Double lip, blepharochalasis, nontoxic thyroid enlargement
Blepharochalasis is ____ and is a clinic feature of ____
Adema of upper eyelid and sagging of outer canthus. Ascher syndrome
Double lip is caused by the abundance of
Minor salivary glands
Blepharochalasis is hyperplasia of
Lacrimal glands
Fordyce granules are
Ectopic sebaceous glands
Fordyce granules are present in
> 80% of population
Most common site for Fordyce granules
Buccal or labial mucosa
Clinical features of Fordyce granules
Asymptomatic, yellow to yellow white, macules or papules, few to hundreds
Which developmental defects only appear in certain facial expressions
Double lip (only when smiling), leukoedema (disappears when stretched)
In what way does Fordyce granules have abnormal sebaceous glands
They have normal sebaceous glands
Sebaceous cells are
Polygonal cells with foamy cytoplasm central nuclei
Leukoedema may be more prominent in
Smokers, African-Americans
Site of Leukoedema
Buckle mucosa, label mucosa, bilateral
Clinical features of leukoedema
Gray white, milky, folded whitish streaks. Disappears when stretched
Histology of leukoedema
Hyperparakeratosis, acanthosis, intercellular edema, intracellular edema
Most common causes of macroglossia
Vascular malformation, muscular hypertrophy
Syndrome that has macroglossia as a clinical feature
Beckwith Weidman syndrome
Clinical features of Beckwith Weidman syndrome
Omphalocele, visceromegaly, gigantism, increased risk for childhood tumors
Omphalocele is ____ and is seen in ____
Intestinal protrusion through abdominal wall, Beckwith Weidman syndrome
Beckwith Weidman histology of tongue
Muscular hyperplasia
Down syndrome can have the clinical feature of ____ with histology showing
Macroglossia, normal structure
Lymphangioma and hemangioma both could result in the clinical feature of ____ showing the histological features of _____
Macroglossia, proliferation of lymphovascular vessels
Neurofibromatosis has a clinical feature of ____ with a histology showing ____
Macroglossia, neurofibroma
Emmaloid doses has a clinical feature of ____ showing histology of ____
Macroglossia, amyloid deposits
Ankyloglossia is also known as
Tongue tie
Theology of ankyloglossia
Short thick lingual frenum
Incidence rate of ankyloglossia
1.7 to 10.7% of neonates
Ankyloglossia can cause
Clefting of tongue
Surgical corrections for ankyloglossia
Frenotomy, frenuloplasty
