9 Dysmorphology

Question 1

Describe the clinical features of 22q11.2 deletion:

Answer 1

DiGeorge syndrome/velocardiofacial syndrome.
Learning difficulties, congenital heart defect.
Velopharyngeal defect, cleft palate.
Hypocalcaemia, immune deficiencies, seizures, renal malformation.

Question 2

Describe the clinical features of achondroplasia:

Answer 2

Rhizomelic (proximal) limb shortening.
Short stature.
Foramen magnum compression + hydrocephalus.

Question 3

Describe the clinical features of Beckwith-Wiedermann syndrome:

Answer 3

Ear pits.
Exomphalos (abode wall weakness, guts out).
Hemihypertrophy (one side larger).
Neonatal hypoglycaemia.
Increased Wilms tumour risk (nephroblastoma).

Question 4

Describe the clinical features seen in Kabuki syndrome:

Answer 4

Persistant foetal finger pads.
Learning difficulties, congenital heart disease, poor growth, hearing impairment, cleft palate, immature breast development.

Question 5

Describe the clinical features of Treacher-Collins syndrome:

Answer 5

Autosomal dominant.
Very variable.
Cleft palate and hearing impairment.

Question 6

Describe the clinical features of Waardenburg syndrome:

Answer 6

Sensorineural hearing impairment.
Iris heterochromia.
Premature greying. Skin hypopigmentation.
Congenital malformations: Hirschprungs, VSD.

Question 7

Describe the clinical features of William’s syndrome:

Genetic change?

Answer 7

Learning difficulties, cocktail party speech.
Hypercalcaemia.
CHDs: aortic and pulmonary artery stenosis.
7q11 deletion.