Brainscape's Knowledge GenomeTM

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


See full index

KZ Pediatrics > Dysmorphism > Flashcards

Dysmorphism Flashcards

1
Q

What is the most common preventable cause of intellectual disability

A

FASD

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

How do you dx FASD

A

maternal drinking

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

What are all the dysmorphisms seen in FASD (8)

A

low nasal bridge, minor ear abnormalities, indistinct phlitrum, micrognathia, epicanthial folds, short palpebral fissures, thin upper lip, fat mid face and short nose

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

What are the discriminating features of FASD? (5)

A

short palpebral fissures, flat mid face, short nose, indistinct philtrum, thin upper lip

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

What are the associated features of FASD?

A

Epicanthial folds, low nasal bridge, minor ear abnormalities, micrognathia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the S&S of untreated congenital hypothyroidism

A

jaundice, poor feeding, hypotonia, macroglossia (large tongue), large fontanelles, delayed closure, course facial features, MR, short stature

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

What do amniotic bands do?

A

The bands rupture and flick off and can amputate a digit or constrict it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is cretinism

A

severe hypothyroidism in the newborn

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What causes cretinism?

A

lack of thyroxine form birth, or before birth. Could be from lack of thyroid gland or lack of iodine in mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is one of the key signs of cretinism

A

macroglassia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are some keys of turners syndrome

A

lymphatic swelling (hands/feet), wide set nipples, webbed neck and extra skin, low posterior hairline, discoloured spots on skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is seen in utero with turners syndrome

A

cystic hygroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is similar to turners in males?

A

noonans syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the incidence of fragile X syndrome

A

1:4000 in males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the clinical manifestations in fragile x syndrome?

A

cognitive difficulties, attention and behavioural problems, macroorchidism, mild facial dysmorphologies, CT abnormalities (hyper extensible), anticipation (repeat disorders)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Kinefelters has what kind of testes?

A

Microorchidism?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the clinical manifestations of Marfans syndrome?

A

Tall, skinny, long arms, long legs, long fingers, long toes, chest cavity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Are there sx of klinefelters pre pubertal?

A

no

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what are the hormonal abnormalities in klinefelters?

A

low androgens, too much estrogen

20
Q

What are two “drugs” that have been linked to gynecomatia?

A

etoh, marijuana

21
Q

Clinical manifestations of Klinefelters?

A

gynecomastia, microorchidism

22
Q

What is the most common karyotype in klinefelters

A

47 XXY

23
Q

What are the three types of spina bifida?

A

Occulta (hair tuft), Meningocele (no nerves out), myelomeningocele (nerves out

24
Q

What is one workup for gynecomastia and microorchidism?

A

karyotyping

25
Q

at what week does the neural cord close?

A

4 weeks

26
Q

Failure of the neural lord to close causes what?

A

spina bifida

27
Q

What is anencephaly?

A

when the cranioneural cord doesn’t develop

28
Q

What is a meningocele?

A

when the meninges herniate

29
Q

What is a myelomeningocele?

A

when the meninges and spinal cord herniate

30
Q

how do you prevent?

A

screen in utero via US mom takes folic acid

31
Q

What is the normal dose of folic acid prenatally?

A

0.4mg

32
Q

What are the key features of downs syndrome?

A

single palmar crease, widely separated first and second toes and increased skin spaces, flattened nose and face, upward slanting eyes, brush fields spots

33
Q

What is the one feature of downs that is very important to know?

A

Brushfields spots

34
Q

What medical condition are individuals with Downs predisposed to (GENETIC)

A

Genetic;

Dysmorphic features, mental retardation

35
Q

What medical condition are individuals with Downs predisposed to (GI)

A

GI;

Tracheo-esophageal fistula, duodenal atresia/stenosis, annular pancrease, malrotation, and volvulus

36
Q

What medical condition are individuals with Downs predisposed to (CARDIAC)

A

Cardiac;

Endocardial cushion defects, PDA, tetralogy and multiple defects

37
Q

What medical condition are individuals with Downs predisposed to (ENT)

A

ENT
Recurrent external and middle ear infections (mostly serous – Glue ear), narrow ear canals, hearing problems, increased incidence serous otitis, impacted cerumen, dry skin, upper respiratory disease and pneumonia, sleep apnea

38
Q

What medical condition are individuals with Downs predisposed to (endocrine)

A

Endocrine

Congenital hypothyroidism, diabetes, hypo/hyper thyroidism

39
Q

What medical condition are individuals with Downs predisposed to (optho)

A

Eyes

Strabismus, refractive error, keratoconus and straphyloma, premature cataracts

40
Q

What medical condition are individuals with Downs predisposed to (MSK)

A

MSK

Hypotonic, dysplastic hips, atlanto-axial instability leading to subluxation, degenerative disease of the cervical spine

41
Q

What medical condition are individuals with Downs predisposed to (Immunology)

A

Immunology
Hep B carrier state leading to cirrhosis and carcinoma of the liver, chronic tinea pedis and tinea unguium, thyroid dysfunction, leukemia

42
Q

What medical condition are individuals with Downs predisposed to (Neuropsych)

A

Neuro/psych

Seizures, depression, dementia (Alzheimer’s type)

43
Q

What medical condition are individuals with Downs predisposed to (behaviour)

A

Behaviour

Non complaince, aggression, self injurious behaviour

44
Q

What medical condition are individuals with Downs predisposed to (Dental)

A

Dental

Delayed/abnormal eruption of teeth, gingivitis, periodontal disease, malocclusion, bruxism

45
Q

What would a positive maternal serum screen for Down Syndrome be? (List test components)

A

Maternal serum screen:
AFP decreased
Estradiol decreased
B-HCG increased

46
Q

What would a positive maternal serum screen for Edwards be? (List test components)

A

Edwards- all down

KZ Pediatrics (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions