Dysmorphology Flashcards
1
Q
Describe what is seen in a 22q11.2 deletion
A
- Very variable
- Learning difficulties-70%
- Cleft palate-15%
- Congenital heart defects-75%
- Immune deficiency
- Renal malformation
- Hypocalcaemia
- Seizures
- Velopharyngeal insufficiency-32%
2
Q
What is seen in Achondroplasia? (How common is it, any risk factors, inheritance pattern)
A
- Autosomal dominant
- Risk inc with paternal age
- Rhizomelic limb shortening
- Short stature
- Foramen magnum compression/hydrocephalus
3
Q
What is seen in Beckwith-Wiedemann Syndrome?
A
- Large tongue
- Ear pits/creases
- Exomphalos
- Hemihypertrophy
- Neonatal hypoglycaemia
- Inc risk of Wilms tumour (nephroblastoma)
4
Q
What is seen in Downs Syndrome?
A
- Learning difficulties
- Congenital heart defects
- Hypotonia in neonates
- Single palmar crease
- Cataracts
- Hearing impairment
- Hypothyroidism
- Leukaemia
- Atlanto-axial instability
- Alzheimer’s disease
5
Q
What is seen in Kabuki Syndrome?
A
- Learning difficulties
- Congenital heart defects-50%
- Poor growth
- Cleft palate
- Premature breast development
- Persistent fetal finger pads-96%
6
Q
What is (skin) mosaicism?
A
- Hypo/hyperpigmented patches
- May follow Blaschko’s lines
7
Q
What is Peutz-Jeghers Syndrome?
A
- Gastrointestinal polyps (bleeding, obstruction)
- Malignancies (colorectal, pancreatic, gastric, breast, ovarian)
8
Q
What is Treacher-Collins Syndrome?
A
- Very variable
- Autosomal dominant
- Affects development of bones & tissues of the face
- Cleft palate
- Hearing impairment
- Downward slanting eyes
- Small jaw & chin
9
Q
What is Waardenburg Syndrome?
A
- Sensorineural hearing impairment
- Iris heterochromia
- Premature greying
- White forelock
- Areas of hypopigmentation
- Congenital malformations (Hirschprungs/VSD)
10
Q
What is William’s Syndrome?
A
- 7q11 deletion
- Learning difficulties
- Cocktail party speech
- Congenital heart disease (supravalvular aortic stenosis, peripheral pulmonary artery stenosis)
- Hypercalcaemia
