Genetics And Dysmorphology

Question 1

What is the first step in management of new diagnosis or suspected diagnosis of Down’s syndrome?

Answer 1

Get an abdominal x-ray to exclude duodenal atrasia

Question 2

Are cataracts associated with Down’s syndrome congenital?

Answer 2

No, they need regular ophthalmology follow up

Question 3

What are the features of ataxia telangectasia?

Answer 3

Chronic sinopulmonary infections, delay in motor milestones, ataxia, cerebellar stuff, oculocutaneous telangiectasia

Question 4

What are the tests for ataxia telangiectasia?

Answer 4

Low IgA
Increased serum alpha-fetoprotein

Question 5

Test to differentiate between Marfans and homocystinuria

Answer 5

High homocysteine levels in urine and plasma methionine

Question 6

Difference between marfans and homocystinuria?

Answer 6

Homo: Downward and inward lens dislocation, osteoporosis, arterial thrombosis and learning difficulties
Marfans: upward and outward lens dislocation, pneumothoraxes, aortic root dilatation/ dissection, mitral regurgitation

Question 7

Tell me about Angelman syndrome

Answer 7

Maternal chromosome 15 or mosaic imprinting defect
Tremulous, hypertonic, seizures
HAPPY, excitable!

Question 8

Tell me about Prader-Willi syndrome

Answer 8

Deletion chromosome 15
Narrow forehead, almond eyes , thin upper lip and downturned mouth.
Short, hypogonadism, learning difficulties

Question 9

Tell me about Apert syndrome

Answer 9

Autosomal dominant
Fingers/toes fused or webbed Hypertelorism, maxillary hypoplasia. Cleft palate. Craniosynostosis- premature closure of sutures

Question 10

Tell me about DiGeorge Syndrome

Answer 10

22q11 deletion syndrome
Cleft palate, low set ears, epicanthic folds.
All the cardiac abnormalities
Hypoclacaemia

Question 11

Tell me about Stickler Syndrome

Answer 11

Dominant or recessive
Connective tissue disorder.
Micrognathia, glossoptisis, hearing loss.

Question 12

Tell me about CHARGE syndrome

Answer 12

Coloboma
Heart defect
Atrasia choanae
Retardation of growth
Genital abnormalities
Ear abnormalities

Question 13

Tell me about cystinosis

Answer 13

Defect in transport of cysteine out of lysosomes
Eyes- retinitis pigmentosa
Thyroid- hypothyroidism
Kidneys- renal tubular acidosis

Question 14

Developmental delay, muscle weakness then rigidity and deafness + urinary sulfatide test positive suggests what?

Answer 14

Metachromatic leukodystrophy

Question 15

Tell me about Crouzon syndrome

Answer 15

AD chromosome 10
Craniosynostosis
Proptosis, ‘parrot nose’