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Embryo Gems-6
AUC
24
Anatomy
Graduate
04/07/2011

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Cards

Term
Pharyngeal Cleft derivitives
Definition
1st pharyngeal cleft: External auditory
meatus

Growth of 2nd arch occludes remaining clefts. Failure leads to cervical sinuses.
Term
Pharyngeal pouch endoderm forms:
Definition
2nd pouch: Palantine tonsil

3rd pouch: inferior parathyroid

4th pouch: Thymus, superior
parathyroid, ultimobrachial body
Term
Tongue Formation from pharyngeal arches
Definition
1st arch: Body and terminal sulcus

2,3 arch: Palantine tonsil, root of tongue

4th arch: Epiglottis
Term
Facial developtment through 5 mesenchymal processes
Definition
Frontonasal
Nasal placode
Maxillary prominence
stomodeum
mandibular prominence
Term
Primary and secondary Pallate formation
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
Term
Lateral Cleft Lip
Definition
Maxillary and medial nasal fail to fuse.
Term
Loss of midline
Definition
Mutation in SHH or cholesterol(Smith-lemli-optiz)

Slight loss: Single central incisor

Total loss: Holoprosencephaly (one hemisphere) and synopthalmia
Term
Hydrocephally
Definition
Blocked circulation of CSF, normally at aqueduct of slyvius
Term
Sympathetic and parasympathetic ganglia are formed by
Definition
Neural Crest cells
Term
Cranial nerves have motor neurons where?

What forms sensory ganglia for cranial nerves?
Definition
Hind brain in specific rhombomeres

Neural crest cells and epibrachial placodes
Term
Eye development
Definition
PAX 6 is the master gene for eye development
Term
Malformation:

Disruption:
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)
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)
Term
Genes vs Environment
Definition
Genes: Malformation, Dysplasia, Syndrome

Environment: Disruption, Deformation

Both: Sequence, Association
Term
HOXA1 Defect

HOXD13 defect

HOXA13 defect
Definition
HOXA1: Affects horizontal gaze and cause
deafness

HOXD13: Synpolydactly. Dominant

HOXA13: Hand-foot-genital syndrome
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
Term
Foetal Alcohol Syndrome
(2% of live births)
Definition
Genes relating to neural crest and facial developmenet. BMP and MSX2
Term
Incidence of defects per 1000 births
Definition
Caridovascular: 10

CNS: 10

Urogenital: 4
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
Term
Holoprosencephaly genetic %
Definition
30-40% trisomy 13.

20% of familial is mutation in SHH
Term
Cleft lip/palate
Definition
Cigarette smoking + TGFa varients.

Vitamin(folic acid) + MTHFR varients

External -> medial and lateral
maxillary process

Internal -> maxillary and lateral
prominences
Term
Van Der Woude Syndrome. VWS
Definition
Autosomal dominant. IRF6 mutation.

Reduces binding of AP-2.

Major risk factor for creft lip.
Term
NAT2 and GST1
Definition
Detoxification genes.

Increase chance of clelft lip if smoker
Term
Dizygotic Twinning vs Monozygotic
Definition
Dizygotic - Genetic

Monozygotic - Random
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