L9- Dysmorphology

Question 1

Dysmorphology

Answer 1

Morphology: the scientific study of the structure and form of either animals and plants or words and phrases

Mainly features in face

NB- features change with age; diagnosis often easier in children than babies/ adults

Question 2

Congenital malformations

Answer 2

-Single malformations often isolated events

-More likely to be genetic if:
Multiple malformations
Dysmorphic
Family history of similar problems

Question 3

DiGeorge syndrome (22q11 deletion)

Answer 3

DiGeorge syndrome is a genetic disorder that’s usually noticeable at birth. Children with the condition can have congenital heart defects, learning difficulties, a cleft palate, seizures, immune deficiencies, Velopharyngeal insufficiency

Question 4

Achondroplasia

Answer 4

~1 in 20,000
Autosomal dominant- often new mutation
Risk increases with paternal age
Rhizomelic (disproportional) limb shortening
Short stature
Foramen magnum compression/ hydrocephalus

Question 5

Beckwith-Wiedemann syndrome

Answer 5

~1 in 10,000
Large tongue

Ear pits/ creases
Exomphalos -(abdominal wall fails to close around the base of the umbilicus. This weakness allows the abdominal contents, mainly the bowel and the liver to protrude outside the abdominal cavity.)

Hemihypertrophy
Neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)

Question 6

Down syndrome

Answer 6

-Commonest chromosomal disorder:
 Learning difficulties
Congenital heart disease
Hypotonia in neonates
Single palmar cease
 Cataracts
Hearing impairment
Leukaemia
Atlanto-axial instability
Alzheimer's disease

Question 7

Kabuki syndrome

Answer 7

~1 in 30,000
Learning difficulties
Congenital heart disease (50%)
Poor growth
Hearing impairment
Cleft palate
Premature breast development
Persistent fetal finger pads

Question 8

Mosaicism

Answer 8

You can sometimes see this as Hypo- &/ or hyper-pigmented patches
May follow Blaschko’s lines
Diagnosis often requires skin biopsy

Question 9

Peutz-Jeghers syndrome

Question 10

Treacher-Collins syndrome

Answer 10

~1 in 50,000

Autosomal dominant

Very variable
Cleft palate
Hearing impairment

Question 11

Waardenburg syndrome

Answer 11

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

Question 12

William’s syndrome

Answer 12

7q11 deletion
~1 in 20,000

Learning difficulties

‘Cocktail party’ speech

-Congenital heart disease
Supravalvular aortic stenosis
Peripheral pulmonary artery stenosis

-Hypercalcaemia