Dysmorphology

Question 1

Describe what is seen in a 22q11.2 deletion

Answer 1

• Very variable
• Learning difficulties-70%
• Cleft palate-15%
• Congenital heart defects-75%
• Immune deficiency
• Renal malformation
• Hypocalcaemia
• Seizures
• Velopharyngeal insufficiency-32%

Question 2

What is seen in Achondroplasia? (How common is it, any risk factors, inheritance pattern)

Answer 2

• Autosomal dominant
• Risk inc with paternal age
• Rhizomelic limb shortening
• Short stature
• Foramen magnum compression/hydrocephalus

Question 3

What is seen in Beckwith-Wiedemann Syndrome?

Answer 3

• Large tongue
• Ear pits/creases
• Exomphalos
• Hemihypertrophy
• Neonatal hypoglycaemia
• Inc risk of Wilms tumour (nephroblastoma)

Question 4

What is seen in Downs Syndrome?

Answer 4

• Learning difficulties
• Congenital heart defects
• Hypotonia in neonates
• Single palmar crease
• Cataracts
• Hearing impairment
• Hypothyroidism
• Leukaemia
• Atlanto-axial instability
• Alzheimer’s disease

Question 5

What is seen in Kabuki Syndrome?

Answer 5

• Learning difficulties
• Congenital heart defects-50%
• Poor growth
• Cleft palate
• Premature breast development
• Persistent fetal finger pads-96%

Question 6

What is (skin) mosaicism?

Answer 6

• Hypo/hyperpigmented patches

- May follow Blaschko’s lines

Question 7

What is Peutz-Jeghers Syndrome?

Answer 7

• Gastrointestinal polyps (bleeding, obstruction)

- Malignancies (colorectal, pancreatic, gastric, breast, ovarian)

Question 8

What is Treacher-Collins Syndrome?

Answer 8

• Very variable
• Autosomal dominant
• Affects development of bones & tissues of the face
• Cleft palate
• Hearing impairment
• Downward slanting eyes
• Small jaw & chin

Question 9

What is Waardenburg Syndrome?

Answer 9

• Sensorineural hearing impairment
• Iris heterochromia
• Premature greying
• White forelock
• Areas of hypopigmentation
• Congenital malformations (Hirschprungs/VSD)

Question 10

What is William’s Syndrome?

Answer 10

• 7q11 deletion
• Learning difficulties
• Cocktail party speech
• Congenital heart disease (supravalvular aortic stenosis, peripheral pulmonary artery stenosis)
• Hypercalcaemia