Developmental Defects Flashcards by Amber Harried

Hereditary and Genetics contributes to what percent of developmental defect etiology

Roughly 85%
With 10 percent inherited
And 5 percent due to environmental factors

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One of the most common developmental anomalies occurring in the 1st trimester is

Cleft lip and/or cleft palate

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Central face development begins at week

4 with the formation of a nasal pit or nostril

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Upper lip forms at weeks and where does the lip derive

6-7
Mid-Lip from the nasal process
Lateral Lips from the maxillary processes!

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Palate forms at weeks

8-12!

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Secondary Plate is the

Fusion of lateral palatial shelves

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The primary palate

Is the merging of the nasal processes to make the premaxilla!

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Associated anomalies are see with approximately

30% cleft lip and palate patients and 50% in isolated cleft palate patients!

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When micrognathia, glossoptosis and “bird face” syndrome occur like the image below what is the diagnosis?

—-Insert picture

Pierre Robin Sequence

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When the medial nasal and maxillary process fails to merge you acquire

A cleft lip

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When the palatial shelves fail to merge you will receive a

Cleft palate diagnosis

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What percent of cases are cleft lip and cleft palate?

45% CL and CP

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What percent of cases are Cleft palate?

About 30%

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How many stands alone cases are cleft lip alone?

About 25%

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What percent of adults have lip pits/Commissural?

12-20% of adults experience this.

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What percent of Cleft Lips are unilateral? What is the most common side for unilateral CL and what is it’s occurrence?

80%of them are unilateral. 70% of the time it’s usually occurring on the left side and occurring with cleft palate!

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What is the occurrence rate of bilateral Cleft Lips associated with Cleft Palate?

Approximately 85% of all bilateral cases are CL with CP associated

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Where do complete clefts involving the alveolus usually occur?

Between the lateral incisor and canine

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What is meant by a complete cleft lip?

The Nostril is included

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What is meant by incomplete cleft lip?

The nostril is not included

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Cleft lip with Cleft Palate occurs more in?

Males> Females

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What is the prevalence of Cleft Lip and Palate?

3.6 out 1000 Native Americans
Asian 1.5x higher than Caucasian (1/300)
Caucasian (1/700)

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Bidding Uvula Prevalence?

Native Americans and Asian 1 out of 10

Caucasians 1 out of 80

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Commissural Pits occur normally in which gender? How deep are they?

Occur in men roughly 1mm-4mm in depth

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Paramedian Lip Pits can occur?

Bilaterally and symmetric along the lower lip

Name the disease shown below that present with oDouble lip (usually acquired) oBlepharochalasis(eyelid edema) oNontoxic thyroid enlgmt (50%)?

Ascher Syndrome

This commonly shows in about 80% of the adult population as yellow/white granules in buccal and lip mucosa?

Fordyce Granules

What is the diagnosis of the clinical presentation below? Insert picture

Leukoedema

Leukoedema is most commonly associated with?

African Americans

How do you diagnose leukoedema?

White milky opalescent striations or marks on the cheek will disappear when you stretch their cheeks

Leukoedema in smokers?

Will be chronically worse encourage cessation to limit the behavior!

What is the actual percentage data in African American adults vs children?

It’s approximately 70%-90% in adults and 50% in children

What is this diagnosis?

Microglossia and an abnormally small tongue! Patient needs orthognathic and orthodontic surgery!

What is this diagnosis?

Macroglossia abnormally large tongue

What is the etiology of primary macroglossia?

Congenital and hereditary Beckwidth and Widemann Syndrome Vascular Malformations Down Syndrome

Diagnosis of the image below? Insert Image

Ankylosis

Lingual Thyroid is more commonly seen in

Women about 4-7x more common than males...

Lingual Thyroid is the only thyroid tissue present in about

70% of cases

Lingual Thyroid is is often more malignant in

Men and prophylactic excision is recommended

What is the diagnosis?

Fissural or scrotal tongue

What are the associations of fissural tongue?

Geographic tongue and xerostomia

What are the big 3 of Melkersson-Rosenthal Syndrome?

fissured tongue, facial nerve paralysis, & chelitis granulomatosis

What is the diagnosis? Insert picture

Hairy tongue

Coated Tongue refers to a

White dorsal surface on the tongue

What is the diagnosis?

Hairy leukoplakia and EBV+

What is the most common abnormal varicose?

Sublingual varix affecting 2/3 or people 60 and older

What is the diagnosis? Insert picture

Caliber Persistent Artery

What is the diagnosis?

Lateral Soft Palate Fistula

Tori can occur?

Bilaterally and symmetrically

Exostoses occurs more in?

Asian and Inuit populations

Torus Palatinus

2x more common in females with a prevalence of 20-30%

What is the bilateral prevalence of Torus Mandibularis?

Greater than 90%

Torus Mandibularis prevalence is less common then Palatinus with a

7-10% occurrence rate

Torus Palatinus more common in women while Torus MANdibularis is more common in

MEN lol

What is the diagnosis? Insert image

Reactive Subpontine Exostosis

What is the diagnosis? Insert image

Eagle syndrome or stylohyoid syndrome

Eagle syndrome occurs more in

Females

Eagle syndrome can be

Unilateral or bilateral and is seen in 18-84% of the population

Diagnosis of the image below indicates?

Stafne Defect

Stafne Defect has a predilection for

For men in about 80-90% of cases

Why do cyst increase in size?

Hydrostatic Luminal Pressure

Diagnosis? Insert picture

Palatal Cyst of the Newborn often referred to as Epstein’s Pearls or Bohn’s Nodules

Epstein Pearls occurs in roughly

80% of newborns and is quite common

Diagnosis? Insert images

Nasolabial cysts

Nasolabial cysts are

3x more common in females than in men with only 10% bilateral

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

Nasopalatine or Incisive Canal Cyst

What is the diagnosis?

Incisive Canal Cyst

Nasopalatine Cyst is more common I. Which gender and what age range?

Males over females. Ages 30-60

Incisive Canal Cyst radiographically are well

Circumscribed and in the midline. Over 6mm around VITAL teeth!

Medial Palatal Cyst are Insert picture

Rare fissural cysts due to entrapped epithelium around fused palatal shelves

Diagnosis Insert image here....

Follicular Cysts of Skin

Epidermis Cysts aka Sebaceous Cysts are most common in

Acne prone areas of the Head Neck and Back as the image below shows... ——-insert image

Epidemics Cysts are more common in

Males (hygiene based)

Dermoid Cysts (Are painless) ———image below

Benign cystic form of teratoma which contain tissues from all three germ layers!

The number one site to see dermoid cysts are in the

Floor of the mouth or sublingual spaces

Thyroglossal Duct Cysts

Occur in the midline with 50% before 20 yrs and 60-80% adjacent to the hyoid!

What percent of Thyroglossal Duct Cysts develop sinus tracts

About 1/3rd of them do

Sis trunk Procedure means

Cyst removal with partial midline segment of the hyoid bone and muscle along tract

Identify the abnormality ———-insert picture

Branchial Cleft or Cervical LE Cyst

Branchial Cleft Cysts are

Anterior or deep to the sternocleidomastoid muscle in the lateral neck!

Branchial Cleft cysts can occur in ages

10-40!

Branchial Cleft Cysts

Present with pain and are often evident after upper respiratory infections or trauma

Branchial Cleft Cysts contains

Lymphoid tissues and germinal centers

Oral LE Cysts are smaller than Cervical LE Cysts

True

Oral LE Cysts are

Asymptomatic and Uncommon

What is the etiology of Oral LE Cysts?

Unknown. Blocked tonsillar crypt May be responsible for keratin filled cysts formation

Most common Location of Oral LE Cysts is

The Floor of the mouth in 50% of cases! ——Insert Images

Diagnosis? ——Insert images

Lymphoid Hyperplasia

Diagnosis? ——-Insert images

Hemihyperplasia

Unilateral enlargement of the face tongue soft tissue and bone Increased in mentally disabled around 20% Higher Prevalence of abdominal tumors!

Diagnosis? ——-insert images

Parry Romberg Syndrome

Explain Parry Romberg Syndrome!

Degenerative atrophy of one side of the face where the mouth and nose will deviate towards the affected side!!!! Trigeminal Nerve affected Higher in Females Osseous hypoplasia Dark pigmentation Onset by 20 years

You have an X-ray with thickened traveculae with opaque granular appearance. The clinical patient has 1-2 developing premolars missing and slight asymmetry. What is a likely diagnosis?

Sogmental Odontomaxillary Dysplasia

What is the diagnosis? ——images

Crouzon Syndrome

Crouzon Syndrome traits include

Premature closure of cranial sutures Brachycepaly—-short head Scaphocephaly——boat shaped head Trigonocephaly-triangle shaped or cloverleaf skull Rare mental deficiency Maxillary hypoplasia

What is the diagnosis? ——images

Apert Syndrome

Diagnosis?

Treacher Collins Syndrome

Apert Syndrome affects which chromosome?

The mutated growth factor receptor 2 aka FGFR2 on chromosome 10

Apert Syndrome affects what fraction of births

About 1:65,000 births a year

Diagnosis? Patient presents with towerskull, flattened forhead , syndactly of 2-4 digits of hands, trapezoidal lips

Apert Syndrome

Diagnosis? ——-images

Colobomas

Treacher Collins Syndrome affects about

1:50,00 births a year

Treacher Collins is due in part to a mutation in which trait

Mutated TCOF1 on chromosome 5!