Developmental Defects Flashcards by Clayton Corbridge

When does central face development begin?

At week 4 of development

Upper lip formation at week 6-7

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The merger of the medial nasal process forms what?

Primary Palate

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The merger of the maxillary processes forms what?

Secondary palate

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A defective fusion of the medial nasal process with the maxillary process results in what?

Cleft lip

*80% are unilateral. Treat with the rule of 10 (10 lbs, 10 weeks, 10 gm %HM)

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Failure of the palatal shelves to fuse results in what?

Cleft palate

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What is the minimal manifestation of cleft palate?

Bifid uvula

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______% of Cleft palate are CL and CP, _____% are only CP and ____% are CL only

45
30
25

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What three things make up Pierre Robin sequence?

1-Cleft Palate
2-Mandibular Micrognathia
3-Glossoptosis (downward displacement)

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Lack of fusion of the maxillary and mandibular processes results in what?

Lateral facial cleft

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Failure of fusion of the lateral nasal process with the maxillary process results in what?

Oblique facial cleft

*upper lip to the eye, almost always with CP

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Failure of fusion of the medial nasal process results in?

Median cleft of upper lip

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What is the prevalence of orofacial clefts across races?

Native americans 1:250
Asians 1:300
Caucasian 1:700
African Americans 1:1500

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When the surface is intact but there is a defect in the underlying musculature of the soft palate, what is it called?

Submucous palatal cleft

*appears as a bluish midline discoloration

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Mucosal invaginations that occur at the corners of the mouth on the vermillion border that are not associated with clefts are called what?

Commissural Lip pits

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Congenital invaginations of the lower lip, usually bilaterally located are called what?

Paramedian lip pits

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What are 4 things to know about Van der Woude syndrome?

1-Greatest significance of paramedic lip pits
2-Autosomal dominant
3-CL + CP
4-Most common form of syndromic clefting

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A redundant fold of tissue on mucosal side of lip is typical of ascher syndrome and called what?

Double Lip

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What are the 3 characteristics of Ascher syndrome?

1-Double lip
2-Blepharochalasis (eyelid edema)
3-Nontoxic Thyroid enlargement

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Ectopic sebaceous glands found in 80 % of the population appearing as yellow papular lesions on the buccal mucosa are called what?

Fordyce Granules

*More common in adults

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Diffuse, gray-white, milky opalescent lesions found bilaterally on buccal mucosa that do not rub off and disappear when the cheek is stretched are is called what?

Leukoedema

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Abnormally small tongue is usually syndromic and called what?

Microglossia

*often associated with limb features such as hypodactylia and hypomelia

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Abnormally large tongue is called what and is most frequently cause by what 3 things?

Macroglossia
1-Vascular malformations
2-Muscular hypertrophy
3-Other (down syndrome, tumors etc.)

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What feature is characteristic of Beckwith-Wiedmann syndrome?

Macroglossia

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A short, thick lingual frenum resulting in limited tongue movement is called what?

Ankyloglossia

*more common in men

Abnormal descending of the primitive thyroid gland can result in a mass found on the foramen cecum and is called what?

Lingual Thyroid *Diagnose via thyroid scan with iodine isotopes of technetium-99m, CT and or MRI

Also known as scrotal tongue, what is it called when the tongue exhibits multiple grooves/furrows and may contribute to mild burning sensation?

Fissured Tongue *Strong association with geographic tongue

AKA benign migratory glossitis, what condition presents as inflammation on the dorsal and/or lateral tongue?

Geographic tongue *Erythema migrans when in a place other than the tongue. May burn or hurt

Accumulation of keratin on the filiform papilla of dorsal tongue is called what?

Hairy Tongue *may cause halitosis and stain depending on diet

Superficial dilated veins, most commonly on the sublingual varix presenting as blue-purple papular nodules are called what?

Varicosities *if calcified=phlebolith

An arterial branch extending into the superficial submucosa without reduction in diameter in which you can feel at pulse is called what?

Caliber persistent artery

Mandibular deviation toward the affected side can be due to what hyperplasia?

Coronoid Hyperplasia

Mandibular deviation toward the opposite side is likely due to what hyperplasia?

Condylar Hyperplasia

Loclaized bony protuberances are called what?

Exostoses *Torus palatinus, Torus mandibularis or Buccal, Palatal, Solitary exostoses

Where does a torus palatinus occur?

Midline of the hard palate

AKA lingual mandibular salivary gland depression, what well circumscribed radiolucency is found below the mandibular canal?

Stafne defect *Histologically normal salivary gland tissue

What is the definition of a cyst?

Pathologic cavity lined by epithelium *typically fluid filled

Keratin pearls found along the median palatal raphe are called what?

Epstein's Pearls or Palatal Cysts of the newborn

When Keratin pearls are found scattered all over the hard palate, usually near junction or soft palate, what are they called?

Bohn's nodules

A swelling of the upper lip, lateral to the midline, resulting in elevation of the ala of the nose is called what?

Nasolabial Cyst *always in soft tissue, often lined with respiratory epithelium

A globulomaxillary radiolucency near the maxillary canine/lateral incisor is most likely what?

Periapical cyst *second most common is periapical granuloma

What is the most common non-odontogenic cyst of the oral cavity?

Nasopalatine duct cyst (incisive canal cyst) *Lined with respiratory epithelium

What is the upper limit of the normal size for the incisive foramen?

6 mm (less than 6 is normal, 6 or larger is likely nasopalatine duct cyst)

What is it called when the nasopalatine duct cyst is in the soft tissue only, without bony involvement?

Cyst of the incisive papilla

What is the most common cyst of the skin?

Epidermoid cyst

What are 4 characteristics of an epidermoid cyst?

1-Nodular 2-Fluctuant (rebounds) 3-Subcutaneous 4-White or yellow

An epidermoid cyst found on the scalp, derived from a hair follicle, is called what?

Pilar cyst

A cyst lined by epidermis like epithelium and contains adnexal structures (hair follicle, sebaceous gland, pilar muscle) are called what?

Dermoid cyst *can occur at midline as a submucosal fluctuant swelling on the floor of mouth

Commonly found on the midline, what cyst develops from epithelial remnants of the thyroglossal tract?

Thyroglossal duct cyst *usually inferior to the hyoid bone

What is one of the most common yellow things, will have lymphoid tissue in the biopsy, and is found in waldeyers ring (tonsils) and FOM?

Lymphoepithelial cyst *most commonly found in FOM

What forms in the upper lateral neck along anterior border of the SCM as a soft, fluctuant mass?

Branchial Cleft cyst/Cervical lymphoepithelial cyst *If bilateral, HIV testing is required

Asymmetric overgrowth of one of more body parts is called?

Hemihyperplasia

Having many features similar to scleroderma, what may be caused by boreal spp infection (lyme disease)?

Progressive hemifacial atrophy

Painless unilateral enlargement of the maxillary bone, along with overgrowth of overlying gingiva is called what?

Segmental odontomaxillary dysplasia *one or both maxillary premolars are frequently missing

What syndrome is characterized by craniosynostosis, cloverleaf skull?

Crouzon syndrome (craniofacial dysostosis)

What does a skull x-ray of a crouzon syndrome patient look like?

Beaten-metal

What mutation causes Crouzon syndrome and apert syndrome?

fibroblast growth factor receptor 2 (FGFR-2) on chromosome 10q26

What are 4 characteristics of Apert syndrome?

1-Ocular proptosis 2-Hypertelorism (wide spaced eyes) 3-Downward slant lateral palpebral fissures 4-Syndactyly of 2, 3, 4 digits of hands and feet

A notch on the outer portion of the lower eyelid called coloboma is characteristic of what syndrome?

Treacher-collins syndrome or mandibulofacial dysostosis *also have hypo plastic zygoma, and underdeveloped mandible