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OPath Final > Syndromes of the Head and Neck > Flashcards

Syndromes of the Head and Neck Flashcards

1
Q

In many instances, the ____ manifestation is the earliest symptom of the disease and heralds a
significant condition to follow (i.e. malignancy)

A

Oral

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2
Q

Short arm of a chromosome is labeled:

A

“p” for petite

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3
Q

Long arm of a chromosome is labeled:

A

“q”

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4
Q

What is characterized by:

  • defects arising from an excess or deficiency of whole chromosomes
  • not familial (very common- 7/1,000 births
  • accounts for half of all spontaneous 1st trimester abortions
A

Chromosome Disorders

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5
Q

Loss of too much autosomal info to permit live birth.

A

Monosomy

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6
Q

Gain of autosomal info compatible with life, but not without handicapped or shortened life span.

A

Trisomy

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7
Q

Loss of an X in a female

A

Turner’s Syndrome (45X)

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8
Q

Loss of an X in a male

A

Lethal (45Y)

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9
Q

Extra X in female

A

Superwoman (47XXX)

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10
Q

Extra X in male

A

Klinefelter’s Syndrome (47XXY)

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11
Q

-traits determined by a multitude of genes, external factors, cluster in families but not “clear-cut”

A

Multifactorial Genetic Disorders

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12
Q

the frequency or percentage with which an inheritable trait is manifested by individuals carrying the gene for that trait

A

Penetrance

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13
Q

the extent or degree to which the inheritable traits are manifested by an individual

A

Expressivity

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14
Q
  • Pierre Robin Syndrome
  • Parry-Romberg Syndrome
  • Crouzon Syndrome
  • Apert Syndrome
  • Treacher Collins Syndrome
  • Cleidocranial Dysplasia
  • Gardner Syndrome
  • Polyostotic fibrous Dysplasia
  • Cherubism
  • Nevoid basal cell carcinoma syndrome (Gorlin-Goltz)
A

Syndromes involving CRANIAL BONES

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15
Q
  • Peutz-Jeghers Syndrome
  • Marfan Syndrome
  • Multiple Endocrine Neoplasia Syndrome IIb
  • Neurofibromatosis, Type 1
  • Cowden’s Syndrome
  • Papillon-Lefevre Syndrome
  • Ectodermal Dysplasia
  • Ehlers Danlos Syndrome
A

Syndromes involving the SKIN and SOFT TISSUE

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16
Q

Syndromes associated with orofacial clefts:

A
  • Van der Woude
  • Crouzon and Apert
  • Treacher Collins
  • Cleidocranial Dysplasia
  • Ectodermal Dysplasia
  • Oro-facial digital
  • Pierre Robin
17
Q

When does a CLEFT LIP develop and how?

A
  • 6th and 7th week of development

- failure of fusion of medial nasal processes of the 1st branchial arches

18
Q

How does a CLEFT PALATE develop?

A

-failure of the premaxilla (medial nasal process) and the palatal shelves of the secondary palate

19
Q

Prevalence of Cleft Lip/Palate:

A

CL+CP > CP > CL

20
Q

Racial Prevalence of Cleft Lip +/- Palate

A

Native North Americans > Asians > Caucasians

21
Q

MInimal manifestation of a cleft palate

A

Bifid Uvula

22
Q

Treatment of Orofacial Clefts

A
  • multudisciplinary
  • primary lip closure (first few months of life)
  • cleft palate wear appliance and have bone grafts/tissue/orthognathic procedures later
23
Q

Severe hypoplasia of mandible, glossoptosis (tongue displaced posteriorly), closure of palate blocked–> cleft palate

A

Pierre Robin Syndrome

24
Q
  • SOX9 gene mutation
  • face is bird-like
  • large, wide U-shaped cleft palate
  • respiratory/feeding problems
  • malocclusion w/ missing teeth
  • Male = Female
A

Pierre Robin Syndrome

25
Q

Treatment/Prognosis for Pierre Robin Syndrome

A
  • CPAP to maintain airway in infants
  • feeding tubes until CP is addressed
  • mandibular distraction
  • Good prognosis if survive infancy
26
Q
  • Uncommon unilateral degeneration and atrophy of one side of the face
  • Onset during first two decades
  • Disturbance of fat metabolism, trauma, and viral infections have been implicated
A

Parry Romberg Syndrome

Progressive Hemifacial Atrophy

27
Q
  • Possibly a localized form of scleroderma
  • Generally unilateral affecting the facial tissues, including muscles, bones, and skin
  • Ocular changes, neurologic disturbances, and seizures reported
  • Coup de sabre
A

Parry Romberg Syndrome

Progressive Hemifacial Atrophy

28
Q

Oral manifestations include atrophy of half of the lip and tongue, shortening of the body of the mandible and the height of the ramus, retarded tooth eruption, and often malformed tooth roots

A

Parry Romberg Syndrome

Progressive Hemifacial Atrophy

29
Q

Treatment for Parry Romberg Syndrome

A
  • Plastic Surgery of soft tissue defects

- Oral surgery and orthodontic therapy after the condition stabilizes

30
Q
  • Unilateral enlargement of one side of the body due to unknown cause (not a hypertrophy)
  • Variable involvement, can involve entire side of body, a limb or just a digit
A

Hemihyperplasia

31
Q
  • Unilateral enlargement of the face
  • Unilateral macroglossia with enlarged papillae
  • Enlarged crowns of teeth
A

Hemifacial Hyperplasia

32
Q
  • Asymmetry often noted at birth
  • At puberty more accentuated; permanent when growth ceases; bone involved, skin thickened, hypertrichosis
  • Females > Males
A

Hemihyperplasia

33
Q 
-Increased prevalence
of abdominal tumors
-Prominent telangiectasia's
-Often associated with nevus flammeus
-Asymmetric jaws with enlargement of the mandibular canal
A

Hemihyperplasia

34
Q

Treatment of Hemihyperplasia

A
  • Rule out systemic disease (neurofibromatosis)

- Cosmetic surgery and orthodontic treatment after cessation of growth

35
Q
  • hereditary; autosomal dominant
  • manifestations are due to synostosis
  • early closure of sutures, especially the coronal suture
  • “beaten copper” skull film
A

Craniofacial Dysostosis

Crouzon Syndrome

36
Q

“Frog-like” Face:

  • midface hypoplasia
  • short upper lip
  • exophthalmos is a constant feature
  • hypertelorism
A

Craniofacial Dysostosis

Crouzon Syndrome

37
Q
  • protuberant frontal region
  • hypoplastic maxilla
  • high arched palate-dental malocclusion
  • parrot-beak nose
A

Craniofacial Dysostosis

Crouzon Syndrome

OPath Final (1 decks)

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