Dysmorphology Flashcards
1
Q
What is dysmorphology?
A
Malformations, usually spotted in the face.
2
Q
How frequent are congenital malformations?
A
2-3% of live births.
3
Q
What is achondroplasia?
A
- Autosomal dominant- often new mutation
- Risk increases with paternal age
- Rhizomelic limb shortening
- Short stature
- Foramen magnum compression/ hydrocephalus - anaesthetic risk
4
Q
What is Waardenburg syndrome?
A
- Sensorineural hearing impairment
- Iris heterochromia
- Premature greying
- White forelock
- Areas of skin hypopigmentation
- Congenital malformations (Hirschprungs/ VSD) (small subset)
5
Q
What is 22q11.2 deletion (DiGeorge) syndrome?
A
- Learning difficulties ~70%
- Cleft palate ~15%
- Velopharyngeal insufficiency 32% (palate not working properly)
- Congenital heart defect 75%
- Hypocalcaemia
- Seizures
- Immune deficiency
- Renal malformation
6
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
7
Q
What is Kabuki syndrome?
A
- Learning difficulties
- Congenital heart disease (50%)
- Poor growth
- Hearing impairment
- Cleft palate
- Premature breast development
- Persistent fetal finger pads (96%)
8
Q
What are the features of Treacher-Collins?
A
- Autosomal dominant
- Very variable
- Cleft palate
- Hearing impairment
9
Q
What is Beckwith-Wiedemann syndrome?
A
- Large tongue
- Ear pits/ creases
- Exomphalos
- Hemihypertrophy
- Neonatal hypoglycaemia
- Increased risk of Wilms tumour (nephroblastoma)
Imprinting disorder
10
Q
What is Peutz-Jeghers syndrome?
A
Cancer syndrome
- Gastrointestinal polyps
- Bleeding
- Obstruction
Pigmentation of the lips
•Malignancies: Colorectal, Gastric, Pancreatic, Breast, Ovarian
