Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Year 4 > Congenital abnormalities > Flashcards

Congenital abnormalities Flashcards

1
Q

What are some features of Down’ syndrome?

A
  • Hypotonia
  • Brachycephaly
  • Upwards loping palpebral fissures
  • Prominent eipcantral folds
  • Short neck with excess skin
  • Short stature
  • Flat facial profile
  • Brushfield spots in eye
  • Simian crease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What conditions/complications is Down’s associated with?

A
  • Learning disability
  • Recurrent otitis media
  • Deafness (conductive hearing loss from recurrent glue ear)
  • Visual problems: myopia, strabismus, cataracts
  • Hypothyroidism
  • Cardiac malformation: ASD, VSD, tetralogy of Fallot
  • Atlantoaxial instability
  • Leukaemia (ALL) in children
  • Dementia in adults
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

When does Klinefelter’s syndrome occur?

A
  • When males have an extra X chromosome (e.g. 47XXY)
  • Can have more than 1 extra X (e.g. 48XXXY) with more severe presentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the features of ?Klinefelter’s syndrome?

A
  • Patient’s normal until puberty
  • Taller height
  • Wider hips
  • Gynaecomastia
  • Reduced libido
  • Infertility
  • Smaller testicles
  • Weaker muscles
  • Narrow shoulders
  • Shyness
  • Subtle learning difficulties (particularly speech and language)
  • Poor beard growth
  • Long arms and legs
  • No frontal baldness
  • Few chest hairs
  • Female pattern of pubic hair
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the prognosis of Klinefelter’s syndrome?

A
  • Life expectancy close to normal
  • Slightly increased risk of breast cancer, osteoporosis, diabetes, anxiety and depression
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

When does Turner’s syndrome occur?

A

When female’s lack an X chromosome (i.e. 45XO)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the features of Turner’s syndrome?

A
  • Classic exam triad of short stature, webbed neck, broad chest with widely spaced nipples
  • High arched palate
  • Downwards sloping eyes with ptosis
  • Cubitus valgus
  • Underdeveloped ovaries with impaired function (mos tare infertile)
  • Late or incomplete puberty
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What conditions are associated with Turner’s syndrome?

A
  • Recurrent otitis media
  • Recurrent UTI
  • Coarctation of aorta
  • Hypothyroidism
  • Hypertension
  • Obesity
  • Diabetes
  • Osteoporosis
  • Various learning disabilities
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the prognosis for Turner’s syndrome?

A
  • Life expectancy close to normal
  • Patients need to be monitored for associated complications
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is Noonan syndrome?

A
  • A genetic condition caused by mutation in a number of genes
  • Majority of cases are autosomal dominant
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the features of Noonan syndrome?

A
  • Short stature
  • Broad forehead
  • Webbed neck
  • Downward sloping eyes with ptosis
  • Hypertelorism (large distance between eyes)
  • Prominent nasolabial folds
  • Low set, widely spaced ears
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What conditions are associated with Noonan syndrome?

A
  • CHD (particularly palm valve stenosis, hypertrophic cardiomyopathy and ASD)
  • Cryptorchidism (may cause infertility; fertility normal in females)
  • Learning disability
  • Bleeding disorders
  • Lymphoedema
  • Increased risk of leukaemia and neuroblastoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Marfans syndrome?

A
  • An autosomal dominant condition affecting the fibrillar gene
  • Symptoms are a result of abnormal connective tissue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the features of Marfan’s syndrome?

A
  • Tall stature
  • Long neck
  • Long limbs
  • Arachnodactyly
  • High arched palate
  • Pectus cavanus or excavatum
  • Hypermobility of joints
  • Downward sloping palpebral fissures
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the 2 tests for arachnodactyly?

A
  • Thumb crossing edge of palm
  • Overlap of fingers and thumb round wrist
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What conditions are associated with Marfan’s?

A
  • Dislocation of eye lens
  • Dislocation of joints
  • Scoliosis
  • Pneumothorax
  • GORD
  • Aortic valve prolapse (with regurg)
  • Mitral valve prolapse (with regug)
  • Aortic aneurysms
17
Q

What monitoring to Marfan sufferers require?

A

Yearly echocardiograms and ophthalmology review

18
Q

Mutation in which gene causes fragile X-syndrome?

A
  • FMR 1 gene
  • Fragile X mental retardation 1 gene
19
Q

What is the inheritance pattern of fragile X?

A
  • X-linked
  • Unclear as to whether dominant or recessive
  • Males always affected, females can vary
20
Q

What are the features of fragile X syndrome?

A
  • Delayed speech and language development
  • Intellectual disability
  • Long narrow face
  • Large ears
  • Large testicles after puberty
  • Hypermobile joints (particularly hands)
  • ADHD
  • Autism
  • Seizures
21
Q

What is the prognosis of fragile X syndrome?

A

Life expectancy close to normal

22
Q

What causes Prader-Willi?

A

Loss of functional genes on long arm of chromosome 15

23
Q

What are the features of Prader-Willi?

A
  • Constant insatiable hunger
  • Hypotonia as a child
  • Mild-moderate learning disability
  • Hypogonadism
  • Fairer soft skin that is prone to bruising
  • MH problems, particularly anxiety
  • Dysmorphic features
  • Narrow forehead
  • Almond shaped eyes
  • Strabismus
  • Thin upper lip
  • Downturned mouth
24
Q

What causes Duchenne muscular dystrophy?

A

Mutation in the dystrophin gene

25
Q

What is the inheritance pattern of DMD?

A
  • X-linked recessive
  • Boys always affected
26
Q

What are the features of Duchenne muscular dystrophy?

A
  • Progressive proximal muscle weakness
  • Muscle weakness goes on to affect all muscles
  • Calf pseudohypertrophy
  • Gower’s sign
  • 30% have intellectual impairment
  • Usual presentation is boys between 3-5
27
Q

What are the investigations for DMD?

A
  • Raised creatinine kinase
  • Genetic testing (has replaced muscle biopsy)
28
Q

What is the prognosis for DMD?

A
  • Most children can’t walk by 12
  • Patients are wheelchair bound by teens
  • Life expectancy is 25-35
  • Associated with dilated cardiomyopathy
29
Q

What is cystic fibrosis?

A
  • Autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas)
  • Caused by mutation in CFTR gene
30
Q

What are the features of cystic fibrosis?

A

-Neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
- Malabsorption (30%): steatorrhoea, failure to thrive
- Other features (10%): liver disease

31
Q

What conditions are associated with CF?

A
  • Short stature
  • Diabetes mellitus
  • Delayed puberty
  • Rectal prolapse (due to bulky stools)
    -N asal polyps
  • Male infertility
  • Female subfertility
32
Q

What organisms may colonise in CF?

A
  • Staphylococcus aureus
  • Pseudomonas aeruginosa
  • Burkholderia cepacia*
  • Aspergillus
33
Q

How is CF diagnosed?

A
  • Cystic fibrosis sweat test
  • CF patients have abnormally high sweat chloride
  • CF indicated by > 60 mEq/l

Year 4 (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions