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39 Cards in this Set

  • Front
  • Back

where and when do the limb buds on an embryo occur

week 4 on ventrolateral body wall

what develops from the mesenchymal mesoderm

bones and connective tissue

what develops form the epithelial ectoderm

the digitis (fingers and toes)

the apical ectodermal ridge (AER) is formed through the thickening of the distal border of what kind of ectoderm

epithelial ectoderm

epithelial ectoderm

the epithelial ectoderm thickens at its distal border to form the AER, which then surrounds the mesenchyme to form what?

the 'progress zone' (PZ) of undifferentiated rapidly proliferating cells

what is a congenital anomaly

a defect present from birth

out of 10,000 births, how many congenital defects will be in the upper limb

3.4/10,000

out of 10,000 births, how many congenital defects will be in the lower limb

1.1/10,000

what are congenital anomalies often associated with

Often associated with craniofacial, cardiac and/or genitourinary defects.

list the IFSSH classification problems

type I • Failure of formation
type II • Failure of differentiation
type III • Duplication
type IV • Overgrowth
type V • Undergrowth
type VI • Constriction band syndromes
type VII • Generalised anomalies and syndromes

what are teratogens

an agent or factor which causes malformation of an embryo.

give examples of common teratogens

Thalidomide


Warfarin


Alcohol


Cocaine

when in embryonic development is the most sensitive period for teratogen induced limb defects

weeks 4-5

 Cells further from AER differentiate into cartilage and muscle.


 Proceeds proximodistally.


 Morphogenesis of lower limbs is 1-2 days behind that of upper limbs.

 Cells further from AER differentiate into cartilage and muscle.


 Proceeds proximodistally.


 Morphogenesis of lower limbs is 1-2 days behind that of upper limbs.

in what week of embryonic development does rotation of limbs occur

week 7

list congenital anomalies

what is amelia

complete absence of one or more limbs

what is meromelia

partial absence of one or more limbs

what is sirenomelia

•Fusion of limbs.


•Siren = mermaid (Greek)

what is hemihypertrophy

overgrowth of limb

what is micromelia

undergrowth of limb

what is constriction band syndrome

what is the pathogenesis of achondroplasia

•Autosomal dominant. •Mutations in the fibroblast growth factor receptor-3 (FGF- R3) gene on chromosome 4p16.3.


•Defect in cartilage-derived bone.

what is the presentation of achondroplasia

•Macrocephaly, frontal bossing, midface hypoplasia, small chest, rhizomelic limb shortening, redundant skin folds, joint laxity

what is the pathogenesis of marina's syndrome

•Autosomal dominant.


•Disorder of connective tissue.


•Mutations in the fibrillin 1 (FBN 1) gene on chromosome 15

what is the presentation of Marfan's syndrome

•Tall stature, long thin digits (arachnodactyly), long thin limbs, hyperextensible joints, a high arched palate, dislocation (usually upwards) of the lenses of the eyes and severe myopia

what are the complications in Developmental Displasia of the Hop (DDH)

-Poorly developed acetabulum and head of femur


-Dislocation commonly occurs after birth


-Avascular necrosis of femoral head.

when do the hands and feet plates occur in embryos

week 6

how are the digits formed


	
	Cell death (apoptosis) in AER divides the ridge into 5 parts. 

	
	
	Growth of the 5 parts of ectoderm continue.

	
	
	Mesenchymal condensation  cartilaginous digital rays.

	
	
	Apoptosis between digital rays. 

Cell death (apoptosis) in AER divides the ridge into 5 parts.


Growth of the 5 parts of ectoderm continue.


Mesenchymal condensation  cartilaginous digital rays.


Apoptosis between digital rays.

what does dactyly mean in greek

digit

what is ectrodactyly

failure of formation of digit(s)

what is syndactyly

failure of differentiation of digits

what is polydactyly

too many digits

what is macrodactyly

overgrowth of digits

what is brachdactyly

undergrowth of digits

what is cleft hand and foot

•3rd meta- carpal and phalangeal bones usually absent.


•Fusion of thumb + index fingers & 4th + 5th fingers 


 


what alex brooker has

•3rd meta- carpal and phalangeal bones usually absent.


•Fusion of thumb + index fingers & 4th + 5th fingers



what alex brooker has

what is club foot

hypoplasia of limb muscles

what is the presentation of cleft foot

•Hindfoot equinus and varus.


•Forefoot adduction.


•Shortened foot



varus - a deformity involving oblique displacement of part of a limb towards the midline

what is the treatment for cleft foot

Ponseti method (serial casting and percutaneous tenotomy of Achilles tendon).