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Year 2 EMS GiM > Dysmorphology > Flashcards

Flashcards in Dysmorphology Deck (19)
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1

What does dysmorphology normally refer to clinically?

Abnormal facial features

2

What percentage of births are affected by congenital malformations?

2-3%

3

What 3 things indicate that a congenital malformation is genetic?

1) Multiple malformations
2) Dysmorphic
3) Family history of similar problems

4

22q11.2 deletion affects around 1/1500 births with a very variable phenotype, what are the features associated with it? 8

1) Learning difficulties (not severe retardation) ~70%
2) Cleft palate ~15%
3) Velopharyngeal insufficiency 32%
4) Congenital heart defects 75%
5) Hypocalcaemia
6) Seizures
7) Immune deficiency
8) Renal malformation

5

Achondroplasia affects how many people and is caused by what kind of mutation?

1 in 20,000
Often new mutation
Autosomal dominant

6

Increase in what increases the chance of a de novo mutation?

Paternal age

7

Give the 3 clinical features associated with achondroplasia?

1) Short stature
2) Rhizomelic limb shortening
3) Foramen magnum compression/ hydrocephalus

8

Beckwith-Wiedemann syndrome affects how many people and is associated with what 6 clinical features?

1 in 10,000
1) Large tongue
2) Ear pits/creases
3) Exomphalos
4) Hemihypertrophy
5) Neonatal hypocalcaemia
6) Increased risk of Wilms tumour (nephroblastoma)

9

What is the most common chromosomal disorder and how many births does it affect?

Downs syndrome
1 in 800 live births

10

What 10 clinical feature/complications are associated with Down syndrome?

1) Learning difficulties
2) Single palmar crease
3) Congenital heart disease
4) Alzheimer's disease
5) Hypotonia in neonates
6) Cataracts
7) Hearing impairment
8) Hypothyroidism
9) Leukaemia
10) Atlanto-axial instability

11

Is a single palmar crease present in individuals without Down syndrome?

Yes, present in other chromosomal disorders
Also present in the general population
Unilateral - 4%
Bilateral - 1%

12

Kabuki syndrome occurs in how many births and is associated with what 7 defects?

1 in 30,000
1) Learning difficulties
2) Congenital heart disease 50%
3) Poor growth
4) Hearing impairment
5) Cleft palate
6) Premature breast development
7) Persistent fetal finger pads 96%

13

In mosaicism hyper or hypo skin pigmentation in patches can occur, what pattern can this often occur in and what is required for diagnosis?

Pattern - follow Blaschko's lines
Skin biopsy required for diagnosis

14

Peutz-Jegher's syndrome occurs in how many births and is associated with what 2 types of clinical features?

Occurs in

15

Treacher-collins syndrome has a very variable phenotype, what are the 2 most common clinical features?

1) Cleft palate
2) Hearing impairment

16

How many births does Treacher-collins syndrome occur and what is its mode of inheritance?

1 in 50,000
autosomal dominant

17

Waardenburg syndrome occurs in how many births and is associated with what 6 clinical features?

1 in 250,000
1) Sensorineural hearing impairment
2) Iris heterochromia
3) Premature greying
4) White forelock
5) Areas of skin hypopigmentation
6) Congenital malformations (Hirschprungs/ VSD)

18

What mutation causes William's syndrome?

7q11 deletion

19

William's syndrome occurs in how many births and is associated with what 5 clinical features?

1 in 20,000
1) Learning difficulties
2) Cocktail part speech
Congenital heart disease
3) Supravalvular aortic stenosis
4) Peripheral pulmonary artery stenosis
5) Hypercalcaemia