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Paediatrics SC1 > Genetics/The Dysmorphic Child > Flashcards

Genetics/The Dysmorphic Child Flashcards

1
Q

What is the Aetiology of Trisomy 21?

A

95% Non-disjunction
4% unbalanced translocation
1% Mosaic (mildest)

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2
Q

What is an unbalanced translocation and what other chromosome is involved in unbalanced translocation in Down’s Syndrome?

A

Unbalanced translocation is when translocation results in extra or missing genetic material.
In Down’s this is usually with chromosome 14

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3
Q

What is Brachycephaly?

A

Flat Occiput

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4
Q

What are brushfield spots

A

White spots arranged in a ring around the pupil

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5
Q

What is Cinodactyly? Where is it seen?

A

Shortened digit (usually 5th)
T21 and Russel-silver syndrome

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6
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the hand (2)?

A

Single palmer crease
Cinodactyly

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7
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the foot (2)

A

Sandle foot (Widely separated 1st and 2nd metatarsal)
Increased skin creases

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8
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the head (2)

A

Microcephaly
Brachycephaly

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9
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the eye (5)?

A

Brushfield spots, cataracts, squints, Upslanted palpebral fissure, Epicanthic folds

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10
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the ear (1)?
What is the significance of this finding?

A

Low set ears (also seen in turner’s)

Short Eustachian tube => increased risk of otitis media. Many have chronic otitis media.

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11
Q

How would you know if ears are low or high set ears or just normal?

A

Draw an imaginary line from the corner of the eye to the ear where normally, 1/3 of the pinnaabove line

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12
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the nose (1)

A

Flattened nasal bridge (gives rise to pseudohypertelorism)

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13
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the mouth (1)
What is a complication that can arise from this finding?

A

Small mouth microstomia with protruding tongue
Sleep apnea

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14
Q

How do measure the mouth

A

draw vertical lines from the pupils down. That is a normal mouth. Bigger = macrostomia, smaller, microstomia

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15
Q

You are asked to examine a patient with down syndrome. what do you expect to see when examining the chin (1)

A

micrognathism

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16
Q

How do you measure the size of the chin?

A

Must be on the same plane as the forehead. If it is too small, its micrognathism, big it is prognathism.

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17
Q

What congenital heart disease can be found in many patients with Down’s? Explain it. How would you confirm this?
What effect would this have on the lungs?

A

AVSD: Atrioventricular septal defect
This is when there is a gap in the septum between the left and right side of the heart which allows blood to flow from the left to right side of the heart.
May cause pulmonary hypertension
ECHO

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18
Q

List complications associated with down syndrome with tests on how to confirm if present (list 5)

A

Delayed developmental milestones
High level of autoimmunity => Hypothyroidism (Hashimoto) => hypothyroidism (TFTs/TSH)
AND Coeliac Disease => Coeliac screen
Obstructive sleep apnea
Atlantoaxial instability
Duodenal Atresia
Hirschprung Disease
Congenital Heart Disease (AVSD) => ECHO
Acquired hip dislocation (X-ray)
Type 1 DM

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19
Q

What is Duodenal Atresia

A

abnormally closed or absent orifice in the duodenum

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20
Q

What is Hirchprung Disease?

A

Congenital disease with missing nerves to the large intestine causing atresia.

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21
Q

What investigations would you consider for a patient with down’s syndrome? (5)

A

FISH/RTPCR (real time PCR)
Specific growth charts for Down’s
Screen for hypothyroidism and Celiac Disease
Eye Examination at 4-6 weeks and 18-24 months
ECHO
Free glucose
Xray

22
Q

How would you confirm a Dx of down syndrome
1) Antenatally
2) Postnatally

A

1) NIPT - Non-invasive prenatal testing (blood test) or Amniocentesis
2) RTPCR or FISH

23
Q

Define
Plagiocephaly
Scaphocephaly
Frontal Bossing

A

Plagiocephaly: Flat in one area (not occiput => Brachycephaly
Scaphocephaly => Premature fusion
Frontal Bossing: Prominent

24
Q

What is the medical term for eyebrows that meet in the middle?

A

Synophrys

25
Q

What is the medical term for eyes that are wide apart?

A

Hypertelorism

26
Q

While examining a patient you notice blue sclera what is this a sign of? What is the inheritance of this disease

A

Osteogenesis imperfecta (AD)

27
Q

In terms of dysmorphic child, what syndrome has a prominent nose as a characteristic feature?

A

Rubinsteini Taybi Syndrome

28
Q

When examining an ear, you notice a skin tag on the tragus. What is this associated with?

A

Goldenhar Syndrome

29
Q

What is the Philtrum? What syndrome is it missing in?

A

What you thought was the nasolabial fold. It is in the midline above your upper lip.
Missing in Foetal alcohol syndrome

30
Q

What is the medical term for small mouth? Where is it seen?

A

Microstomia in Down’s Syndrome.

31
Q

You inspect a child with a cleft lip/palate what doe you suspect?

A

Trisomy 13, di George

32
Q

What is the medical term for small chin. Big? Where is it seen?

A

Micro/PROgnathism
Down Syndrome

33
Q

While inspecting a patient you notice that her neck extends wider than usual. What is this finding and where is this characteristically found?

A

Webbing of the neck found in Turner’s Syndrome and Noonan’s

34
Q

While inspecting a patient you notice an absent thumb. What syndrome is this associated with?

A

Fanconi Syndrome

35
Q

While inspecting a patient, you ask them to fan out their fingers and notice that two fingers on the right hand are not separating as well on the left. What is this clinical finding and what is it associated with?

A

Syndactyly, Trisomy 18

35
Q

What inheritence is tuberosclerosis

A

Autosomal dominant

36
Q

What inheritence is neurofibromatosis Type 1:

A

Autosomal dominant

37
Q

What inheritence is cystic fibrosis

A

Autosomal recessive

38
Q

What is the inheritence of hemophilia, colour blindness, and muscular dystrophy

A

Recessive X-linked

39
Q

What is the inheritence of beta thallasemia and sickle cell anemia

A

Autosomal recessive

40
Q

What is the inheritence of hypophosphatemic rickets

A

X-linked dominant

41
Q

What are the cardinal features of Turner Syndrome

A

Short Stature, infertility, webbed neck, coarctation of the aorta, widely spaced nipples, aortic stenosis,

42
Q

How is Fragile X syndrome Diagnosed?

A

Trinucleotide repeat expansion in gene FMR1 via molecular analysis.

43
Q

What is the normal inheritance of these trinucleotide repeat disorders
Fragile X Syndrome
Friedriech ataxia
Most others

A

Most of these triplet repeat disorders are autosomal dominant except Friedrich ataxia which is autosomal recessive and fragile X syndrome which is Xlinked recessive

44
Q

What are some clinical features associated with Fragile X-Syndrome (at least 5)

A

Note: These are most evident in an adult
Moderate-severe learning difficulty
Macrocephaly
Macroorchidism (large testes)
Characteristic Facies: Long face, !!large everted ears!!(also in Digeorge’s if 22:11), Prominent mandible and forehead.

45
Q

Define “Imprinting”

A

It is when the expression of some genes are different based on the sex of the individual that has given you that gene.
e.g. Failure to receive the functioning gene from the father will give you Prader Willi (therefore 2 maternal genes) and failure from the mother will give you Angelman (therefore 2 paternal genes).

46
Q

What are some clinical features associated with Prader Willi Syndrome (5)?

A

Hypotonia
Hypogonadism
characteristic facial features (almond eyes, triangular mouth)
Neonatal feeding difficulties but hyperphagia in adulthood
Faltering growth in infancy (short stature)
Developmental delay and learning difficulties

47
Q

A baby is delivered and you notice that they are hypotonic. What 2 syndromes are you suspecting (genetics)

A

Down’s Syndrome
Prader Willi Syndrome

48
Q

What is the most common mode of inheritance.

A

Polygenic
so if you dont know, say this especially if there is a quantitative component.

49
Q

What are some clinical features of Noonan’s (give 3)?

A

Webbing of neck (also in turner)
Pectus Excavatum
short stature
congenital heart disease (ASD, pulmonary stenosis)

50
Q

What is Iris Coloboma

A

Key-ring pupil, looks like it is oozing out.

Paediatrics SC1 (19 decks)

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