Congenital Conditions Flashcards
Osteogenesis Imperfecta
-_____ bone formation.
-Mutations of the genes: _____(MC)
_____
_____
_____.
- This decreases the amount of type 1 _____ that is produced in the body.
- The results of this is weak _____ tissues and _____ bones that can lead to _____
Osteogenesis Imperfecta
-Imperfect bone formation.
-Mutations of the genes: COL1A1 (MC) COL1A2 CRTAP P3H1
- This decreases the amount of type 1 collagen that is produced in the body.
- The results of this is weak connective tissues and brittle bones that can lead to fractures
Type 1 Osteogenesis Imperfecta
-Type 1 OI. Mild to moderate _____ without any bone _____
-It is associated with: Blue \_\_\_\_\_ \_\_\_\_\_ face \_\_\_\_\_loss \_\_\_\_\_ bruising
Type 1 Osteogenesis Imperfecta
-Type 1 OI. Mild to moderate fragility without any bone deformity
-It is associated with: Blue sclerae Triangular face Hearing loss Easy bruising
Type 2 Osteogenesis Imperfecta
- Type 2 OI. The most _____ form of OI
- Stillbirth or death during _____ or early ______
- There is extreme ______ of the connective tissue, multiple ______ fractures and severe bone ______
Type 2 Osteogenesis Imperfecta
- Type 2 OI. The most severe form of OI
- Stillbirth or death during infancy or early childhood
- There is extreme fragility of the connective tissue, multiple utero fractures and severe bone deformation
Type 3 Osteogenesis Imperfecta
- Type 3 OI
- Moderately severe but less that type __
-There is: Progressive \_\_\_\_\_ Scoliosis \_\_\_\_\_ face Large \_\_\_\_\_ Severe \_\_\_\_\_ Severe \_\_\_\_\_ of bones Extreme short \_\_\_\_\_
Type 3 Osteogenesis Imperfecta
- Type 3 OI
- Moderately severe but less that type 2
-There is: Progressive deformities Scoliosis Triangular face Large skull Severe osteoporosis Severe fragility of bones Extreme short stature.
Type 4 Osteogenesis Imperfecta
- Type 4 OI
- Milder than Type __ but worse than Type __
-Can have a: Near normal \_\_\_\_\_ Moderate skeletal \_\_\_\_\_ Osteoporosis \_\_\_\_\_ shaped rib cage Light to normal \_\_\_\_\_ Joint \_\_\_\_\_
Type 4 Osteogenesis Imperfecta
- Type 4 OI
- Milder than Type 3 but worse than Type 1
-Can have a: Near normal lifespan Moderate skeletal fragility Osteoporosis Barrel shaped rib cage Light to normal sclerae Joint hyperextensibility
Ehlers-Danlos Syndrome
-Hereditary _____ disorder characterised by:
Articular _____
Dermal _____
Tissue _____
Ehlers-Danlos Syndrome
-Hereditary collagen disorder characterised by:
Articular hypermobility
Dermal hyperelasticity
Tissue fragility
Ehlers-Danlos Syndrome
- This is caused by the mutations in the genes that affect collagen type __, __ and __
- _____ _____ is the collagen modifying enzyme
- Confirmation via _____ testing
Ehlers-Danlos Syndrome
- This is caused by the mutations in the genes that affect collagen type 1, 3 and 5.
- Lysyl hydrolase is the collagen modifying enzyme
- Confirmation via genetic testing
Marfan’s Syndrome
- _____ connective tissue disorder
- Abnormal elastic tissues in the _____ muscles and _____ muscles
- If left untreated, death in __-__ is common
Marfan’s Syndrome
- Systemic connective tissue disorder
- Abnormal elastic tissues in the skeletal muscles and cardiovascular muscles
- If left untreated, death in 30-40s is common cles
Marfan’s Syndrome
- Caused by the mutation of _____ gene, Chromosome __ and is an autosomal dominant
- tall thin with long limbs and _____ (long fingers)
- Pectus _____ or _____
- _____ joints
- ______ of the hands
- Kyphosis or scoliosis
Marfan’s Syndrome
- Caused by the mutation of fibrillin gene, Chromosome 15 and is an autosomal dominant
- tall thin with long limbs and arachnodactilia (long fingers)
- Pectus carinatum or excavatum
- Hypermobile joints
- Contracture of the hands
- Kyphosis or scoliosis
Down’s Syndrome
- Trisomic of Chromosome __ which is detectable in the first or early second trimester
- Chances are increased as the _____ ages, the chances exponentially increase after the age of __ years
Down’s Syndrome
- Trisomic of Chromosome 21 which is detectable in the first or early second trimester
- Chances are increased as the mother ages, the chances exponentially increase after the age of 35 years
Down’s Syndrome
-Craniofacial features such as:
Flat _____
_____ fold
Large _____
- _____disability
- Congenital heart disease (__%)
- _____ from early to mid-adulthood
Down’s Syndrome
-Craniofacial features such as:
Flat occiput
Epicanthal fold
Large tongue
- Intellectual disability
- Congenital heart disease (50%)
- Dementia from early to mid-adulthood
Paget’s Bone Disease
- Metabolic bone disease caused by increased bone _____ followed by excessive deposition of dense bone due to activated _____
- second most common form of bone condition after _____
- X-ray
- Bone biopsy needed if the X-ray comes up _____
Paget’s Bone Disease
- Metabolic bone disease caused by increased bone resorption followed by excessive deposition of dense bone due to activated osteoclasts
- second most common form of bone condition after osteoporosis
- X-ray
- Bone biopsy needed if the X-ray comes up negative
Paget’s Bone Disease
- Can be _____
- Constant, deep and aching _____ pain
- Aching pain is worse at _____
- Pain _____ with physical activity
- Neurological pain
- _____ and increased skull size
- Warmth over affected bone and joint
- _____ weakness or numbness
- Loss of bowel or bladder
Paget’s Bone Disease
- Can be asymptomatic
- Constant, deep and aching bone pain
- Aching pain is worse at night
- Pain decreases with physical activity
- Neurological pain
- Bowlegs and increased skull size
- Warmth over affected bone and joint
- Facial weakness or numbness
- Loss of bowel or bladder
Osteoporosis
-Compromised bone _____ which predisposes a person to increased risk of _____
-The people more at risk are: Females Early \_\_\_\_\_ \_\_\_\_\_ history of OP Lean body Lack of \_\_\_\_\_ or excessive \_\_\_\_\_ when young Long term \_\_\_\_\_ Alcohol and smoking
Osteoporosis
-Compromised bone strength which predisposes a person to increased risk of fractures
-The people more at risk are: Females Early menopause Family history of OP Lean body Lack of exercise or excessive exercise when young Long term medication Alcohol and smoking
Osteoporosis
-Due to many different factors, we see deterioration of bone
-This can be due to:
_____ and vitamin __ deficiency
_____ bone loss
Age, genetics and _____
-FRAX Tool
-Bone density test
Normal = > -1.0
Osteopenia = -1.0 - -2.5
Osteoporosis = < -2.5
Osteoporosis
-Due to many different factors, we see deterioration of bone
-This can be due to:
Calcium and vitamin D deficiency
Menopausal bone loss
Age, genetics and diet
-FRAX Tool
-Bone density test
Normal = > -1.0
Osteopenia = -1.0 - -2.5
Osteoporosis = < -2.5
