Term
| Pharyngeal Cleft derivitives |
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Definition
1st pharyngeal cleft: External auditory
meatus
Growth of 2nd arch occludes remaining clefts. Failure leads to cervical sinuses. |
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Term
| Pharyngeal pouch endoderm forms: |
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Definition
2nd pouch: Palantine tonsil
3rd pouch: inferior parathyroid
4th pouch: Thymus, superior
parathyroid, ultimobrachial body |
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Term
| Tongue Formation from pharyngeal arches |
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Definition
1st arch: Body and terminal sulcus
2,3 arch: Palantine tonsil, root of tongue
4th arch: Epiglottis |
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Term
| Facial developtment through 5 mesenchymal processes |
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Definition
Frontonasal
Nasal placode
Maxillary prominence
stomodeum
mandibular prominence |
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Term
| Primary and secondary Pallate formation |
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Definition
Primary: relies on correct midline fusion
of intermaxillary segments
Secondary palate: Zipping up of roof.
Fusion of palantine shelfs
Primary Pallate contains front 4 teeth, incissors |
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Term
|
Definition
| Maxillary and medial nasal fail to fuse. |
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Term
|
Definition
Mutation in SHH or cholesterol(Smith-lemli-optiz)
Slight loss: Single central incisor
Total loss: Holoprosencephaly (one hemisphere) and synopthalmia |
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Term
|
Definition
| Blocked circulation of CSF, normally at aqueduct of slyvius |
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Term
| Sympathetic and parasympathetic ganglia are formed by |
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Definition
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Term
Cranial nerves have motor neurons where?
What forms sensory ganglia for cranial nerves? |
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Definition
Hind brain in specific rhombomeres
Neural crest cells and epibrachial placodes |
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Term
|
Definition
| PAX 6 is the master gene for eye development |
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Term
|
Definition
Malformation: structural defect resulting
from intrinsically abnormal development
process. (Cleft Lip)
Disruption: Structural Defect resulting
from break down of or interference
with an originally normal process.
(Uterine Constriction) |
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Term
Dysplasia:
Sequence:
Syndrome: |
|
Definition
Dysplasia: Abnormal organization of
cells into tissues and morphological
consequences. (Achondroplasia)
Sequence: Structural defect or
mechanical factor leading to secondary
effects (potter sequence)
Syndrome: Multiple anomalis with single cause, occur independently, not sequential. (22q deletion) |
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Term
|
Definition
Genes: Malformation, Dysplasia, Syndrome
Environment: Disruption, Deformation
Both: Sequence, Association |
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Term
HOXA1 Defect
HOXD13 defect
HOXA13 defect |
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Definition
HOXA1: Affects horizontal gaze and cause
deafness
HOXD13: Synpolydactly. Dominant
HOXA13: Hand-foot-genital syndrome |
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Term
Drugs and defects
(2% of live births) |
|
Definition
Thalidomide: Cardiac and ear
abnormalities. Blocks proliferation of
mesenchymal cells in limb bud
Anti-epileptic drugs: learning
disabilities and behavioural problems
Retinoids: hydrocephalus
Chloroquine: Deafness
Phenytoin: cardiac defects, cleft palate |
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Term
Foetal Alcohol Syndrome
(2% of live births) |
|
Definition
| Genes relating to neural crest and facial developmenet. BMP and MSX2 |
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Term
| Incidence of defects per 1000 births |
|
Definition
Caridovascular: 10
CNS: 10
Urogenital: 4 |
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Term
| Genetic Causes(% of total) |
|
Definition
Genetic is 30-40%.
20-30% of that is multifactorial
ASD - Oligogenetic mostly.
VSD: Oligogenetic. JAG1 or CSX
are single gene defect
NTD. Risk associated in MTHFR in mother. Rare mutations in VANGL |
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Term
| Holoprosencephaly genetic % |
|
Definition
30-40% trisomy 13.
20% of familial is mutation in SHH |
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Term
|
Definition
Cigarette smoking + TGFa varients.
Vitamin(folic acid) + MTHFR varients
External -> medial and lateral
maxillary process
Internal -> maxillary and lateral
prominences |
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Term
| Van Der Woude Syndrome. VWS |
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Definition
Autosomal dominant. IRF6 mutation.
Reduces binding of AP-2.
Major risk factor for creft lip. |
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Term
|
Definition
Detoxification genes.
Increase chance of clelft lip if smoker |
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Term
| Dizygotic Twinning vs Monozygotic |
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Definition
Dizygotic - Genetic
Monozygotic - Random |
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