ssyndromes

Question 1

features of Turner’s Syndrome (45X0)

Answer 1

• Short stature
• Ovarian dysgenesis
• Physical stigma (wide chest, wide spaced nipples, wider necks)
• Hypothyroidism
• Glue ear
• Skeletal dysplasia

Question 2

Features of Prader-Willi Syndrome

Answer 2

• Infantile hypotonia (Feeding problems)
• Hyperphagia (Obesity)
• Short stature
• Developmental delay
• Hypogonadism

Question 3

Features of Achondroplasia

Answer 3

• Short limbed dwarfism
• Skeletal dysplasia

Question 4

Features of Noonan Syndrome

Answer 4

• Facial Features (Prolonged philtrum, drooping eye lids)
• Short stature
• Congenital heart disease (Pulmonary valve stenosis)

Question 5

Features of Downs

Answer 5

Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease

Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot

Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Atlantoaxial instability
Leukaemia is more common in children with Down’s
Dementia is more common in adults with Down’s