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MCBM Exam 5 Kat > Craniofacial Defects > Flashcards

Craniofacial Defects Flashcards

1
Q

What are some examples of 1st arch disorders?

A

Treacher Collins Syndrome

Pierre Robin Syndrome

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2
Q

What are some examples of 3rd/4th arch disorders?

A

DiGeorge Syndrome

Velocardiofacial Syndrome

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3
Q

What causes Treacher Collins Syndrome?

A

Malformations in 1st and 2nd pharyngeal arch derivaties; lack of neural crest migration/population

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4
Q

What is the candidate gene of Treacher Collins Syndrome?

A

Tcof1 a transcription factor gene found on chromosome 5

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5
Q

What are the symptoms of trencher-collins syndrome?

A

Malformation of faces, skull, eyes, ears, nose and palate
Narrow face, hypo plastic supraorbital rims & zygotes
Sunken cheekbones
Malformed pinnae
Receding chin & downturned mouth

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6
Q

What are the clinical features of Pierre Robin Syndrome/Sequence?

A

Hypoplasia of mandible prior to wk 9
Posterior position of tongue prevents overgrowth of posterior palatal shelves
Unusual rounded cleft
Posterior airway obstruction

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7
Q

What are the clinical features of DiGeorge Syndrome?

A 
Absence of thymus &/or parathyroids
Micrognathia
Hypertelorism
Low set, posteriorly angulated ears
Short philtrum
Choanal atresia
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8
Q

How is DiGeorge Syndrome inherited?

A

AR, AD, sporadic

Also can be induced by teratogens

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9
Q

What is the cause of DiGeorge Syndrome?

A

Lack of neural crest cell migration into 3rd & 4th pharyngeal pouches

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10
Q

What are the candidate genes of DiGeorge Syndrome?

A

Tbx1 & TUPLE

Embryonic transcription factor genes found on chromosome 22

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11
Q

What disorder causes Velocardiofacial syndrome?

A

22q11 monosomy

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12
Q

What are symptoms of Velocardiofacial syndrome similar to?

A

Severe forms of DiGeorge Syndrome

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13
Q

What are the symptoms of Velocardiofacial syndrome?

A 
Cardiac
Abnormal faces
Thymic hypoplasia
Cleft palate
Hypocalcemia
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14
Q

What’s the incidence of Velocardiofacial syndrome?

A

1:2000

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15
Q

What causes cleft lip?

A

Failure of maxillary prominence to fuse with medial nasal prominence

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16
Q

What causes cleft palate?

A

Failure of the palatine shelved to fuse

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17
Q

What is anterior cleft palate?

A

No fusion with primary palate

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18
Q

What is posterior cleft palate?

A

No fusion with nasal septum

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19
Q

What is the cleft palate/lip incidence in the Japanese, Caucasians and American Blacks?

A

Japanese - 1.7:1000
Caucasian - 1:1000
American Blacks - 0.4:1000

20
Q

What are the risk factors for cleft lip/palate?

A

Smoking
Alcohol
Retinoic Acid
Dilantin

21
Q

What is a thyroglossal duct cyst?

A

Persistence of the thyroglossal duct which results in cyst formation at the base of the throat

22
Q

What is Ankyloglossia or ‘Tongue Tie’?

A

Caused by frenulum that extends too far anteriorly, limiting movement of the tongue

23
Q

What is a pharyngeal fistula?

A

Pharyngeal pouch 2 & pharyngeal groove 2 persist; forms opening from internal tonsilar area to external neck

24
Q

What is a pharyngeal cyst?

A

Pharyngeal groove persists, usually near angle of mandible

25
Q

What is ectopic, parathyroid/thyroid?

A

Abnormal migration of gland tissue from embryonic origin

26
Q

What are some features of Amelogenesis Imperfecta: AlH1: Hypoplastic?

A 
Male - thin enamel
Female - regions of thick and thin enamel
AmelX mutation
Amelogenin defect
X-linked inheritance
27
Q

What are some features of Amelogenesis Imperfecta: AlH2: Hypomineralization?

A

Enamel is of normal thickness but is extremely soft
AMBN mutation?
Ameloblastin defect?
AD inheritance

28
Q

What are the clinical features of dentinogenesis imperfecta?

A

Opalescent blue-gray
Bulbous crowns, narrow roots, small pulp chambers & root canals
Enamel splits easily

29
Q

What mutation causes Dentinogenesis Imperfecta?

A

Dspp mutation (dentin phosphoprotein & dentin sialoprotein)

30
Q

What is craniosynostosis?

A

Premature fusion of the cranial sutures

31
Q

What are some examples of syndromic craniosynostosis?

A

Pfeiffer
Apert/Crouzan
Saethre-Chotzen
Greig-Cephalopolysyndactyly

32
Q

What are some non-syndromic examples of craniosynostosis?

A

Compression associated
Examples include multiple fetuses
Uterine malformation

33
Q

What are most FGFR mutations clustered around?

A

The Ig domain 3

34
Q

What do FGFR mutations that cause craniocynostosis result in?

A

“gain of function” due to self-dimerization

35
Q

What does a defect in fgfr1 cause?

A

Pfeiffer syndrome

36
Q

What does a defect in fgfr2 cause?

A

Apert Syndrome

Crouzan Syndrome

37
Q

What does a defect in fgfr3 cause?

A

Achondroplasia

Craniosynostosis

38
Q

What does a defect in twist cause?

A

Saethre-Chotzen

39
Q

What does a defect in gli3 cause?

A

Greig Cephalopolysyndactyly

40
Q

What are some clinical features of apert syndrome?

A 
AD inheritance
Osseous syndactyly
Coronal craniosynostosis
Mental deficiency
\+/- cleft palate
fgfr2 mutation
41
Q

What are some clinical features of Saethre-Chotzen Syndrome?

A 
AD inheritance
Coronal craniosynostosis
Maxillary hypoplasia
Facial assymetry
Hyperteloricm
Cutaneous syndactyly
Twist mutation
42
Q

What is holoprosencephaly?

A

A developmental field defect of impaired midline cleavage of the embryonic forebrain

43
Q

What are some causes of Holoprosencephaly?

A

15-20% genetic causes
Teratogens
Maternal diabetes mellitus
Maternal hypocholesterolemia

44
Q

What signaling protein is often found to be defective in many forms of holoprosencephaly?

A

shh or sonic hedgehog protein

45
Q

What 3 other proteins are involved in the holoprosencephaly pathway?

A

patched: Shh receptor (ligand binding)
smoothened: Shh receptor (signaling)
gli: transcription factor

MCBM Exam 5 Kat (15 decks)

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