A. Down’s syndrome – Explanation
Down syndrome has many features. Duodenal atresia is one of them that you must
notforget. Double bubble sign indicates duodenal atresia.
For the purpose of PLAB, link these 3 terms closely:
Double bubble sign → Duodenal atresia → Down’s syndrome
It is easy to remember as the all start with the letter “D”.
Down’s Syndrome
Clinical features
-face: upslanting palpebral fissures, epicanthal folds, protruding tongue,small ears,
round/flat face
– flat occiput
– single palmar crease, pronounced ‘sandal gap’ between big and first toe
– congenital heart defects
– duodenal atresia
– Hirschsprung’s disease
Cardiac complications
– atrioventricular septal canal defects
– ventricular septal defects
Later complications
– subfertility
– learning difficulties
– short stature
– acute lymphoblastic leukaemia
– Alzheimer’s
COMPARING THE TRISOMIES
These are some of the key features of the trisomies
| Features | |
| Patau syndrome (Trisomy 13) | Microcephalic Microphthalmia Cleft lip and palate Polydactyly Scalp defects (cutis aplasia: skin missing from the scalp) |
| Edward syndrome (Trisomy 18) | Microcephaly Micrognathia Prominent occiput Rocker bottom feet Clenched hand-index over third; fifth over fourth |
| Down syndrome (Trisomy 21) | Flat occiput Round/flat face Epicanthal folds Single palmar crease Protruding tongue Duodenal atresia |
