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Head - 4 > embryology - clinical conditions > Flashcards

embryology - clinical conditions Flashcards

1
Q

what is an example of a 1st arch syndrome?

A

Treacher-Collins Syndrome

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2
Q

what is Treacher-Collins syndrome?

A

an autosomal dominant condition

failure of colonisation of 1st Ph Arch with NEURAL CREST CELLS (many organs derive from neural crest cells)

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3
Q

skeletal derivative of 1st Ph A?

A

Meckels cartilage = mandible, malleus, incus

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4
Q

what does Treacher-Collins syndrome result in?

A

hypoplasia of mandible and facial skeleton
along with defects in development of ears and palate
(Meckels cartilage = mandible, malleus, incus)

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5
Q

what is Di George’s syndrome?

A

failure in development of 3rd + 4th Ph pouches

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6
Q

what causes Di George’s syndrome?

A

deletion on chromosome 22

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7
Q

derivative of 3rd pharyngeal pouch?

A

inferior parathyroid

thymus

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8
Q

derivative of 4th pharyngeal pouch?

A

superior parathyroid

C cells of thymus (secrete PTH, Ca2+ regulation)

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9
Q

What does Di George’s syndrome cause?

A

abnormal development of neural crest (under epidermis - ectoderm)

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10
Q

Function of neural crest cells?

A

give rise to a diverse cell lineage—including:

melanocytes (skin), craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia (nerves)

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11
Q

what are the symptoms of Di George’s syndrome?

A

CATCH 22:
Cardiac problems (e.g. tetralogy of Fallot)
Abnormal facies
Thymic aplasia (from 3rd pouch = no thymus)
Cleft palate
Hypocalcaemia (no C cells to regulate Ca2+: 4th pouch)

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12
Q

how does a branchial cyst / fistulae come about?

A

initially 4 pharyngeal clefts, but only 1st cleft remains
as 2nd proliferates to overlap 3rd + 4th
occurs if obliteration of cervical sinus not complete

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13
Q

what does the Ph 1 cleft become?

A

EAM

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14
Q

how do branchial cysts present?

A

lumps along border of SCM

below angle of jaw

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15
Q

how can cleft lip form?

A

with improper formation + fusion of palatal shelves (of maxillary prominence - forms secondary palate)

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16
Q

what is lateral cleft lip?

A

failure of fusion of MEDIAL nasal prominences (primary palate) and maxillary prominence (palatal shelves)
(primary palate doesn’t fuse with secondary)

17
Q

what is cleft lip and palate?

A

combined failure of cleft lip (medial nasal + maxillary) AND failure in palatal shelves to meet in midline
(primary doesn’t meet secondary AND secondary not complete - doesn’t fuse in middle)

18
Q

why is cleft lips a problem?

A

can cause an inability to feed and speak properly

19
Q

what do common chromosomal abnormalities have associated with?

A

associated external ear anomalies

20
Q

what are placodes?

A

an area of thickening of epithelium in the embryonic head ectoderm layer, that gives rise to neurons and other structures of the sensory nervous system

21
Q

why does foetal alcohol syndrome occur?

A

alcohol cross placenta freely (small molecule)

22
Q

what is sensitive to alcohol in the foetus?

A

neural crest migration (nervous system) and development of brain (CNS)

23
Q

how does foetal alcohol syndrom epresent?

A

growth, mental + physical problems

e.g. flat short philtrum, small lower jaw

24
Q

what is a condition related to FAS?

A

alcohol-related neurodevelopmental delay (ARND)

25
Q

what is ARND?

A

(mild form of FAS)

slight developmental delay / slow progression due to alcohol comsumption

26
Q

what is charge syndrome?

A

CHD7 heterozygous mutation

27
Q

why is CHD7 heterozygous mutation a problem?

A

CHD7 essential for production of multipotent neural crest cells

28
Q

function of neural crest cells in H+N?

A

NC should migrate just as the neural tube closes to drive the normal development of H+N structures

29
Q

what is the neural tube?

A

a hollow structure from which the brain and spinal cord form

30
Q

what are the symptoms of Charge syndrome?

A 
C - coloboma
H - heart defects
A - chonal atresia
R - growth and development Retardation
G - Genital hypoplasia
E - Ear defect
31
Q

what is coloboma?

A

a hole in one of the structures of the eye:

e.g. iris, retina, choroid, or optic disc

32
Q

what is choanal atresia?

A

congenital disorder: back of the nasal passage (choana) is blocked
usually by abnormal bony or soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development

Head - 4 (111 decks)

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