Which is not true about Down's syndrome -
Ans. is 'b' i.e., Decreased nuchal fold thickness o Nuchal fold thickness is increased in Down's Syndrome (not decreased). Infact this feature is used in suspecting the diagnosis of Down's Syndrome prenataly. DOWN'S SYNDROME o Down's syndrome is a condition in which extra genetic material causes delay in the way a child develops, and often leads to mental retardation. o In Down's syndrome the child gets an extra chromosome, he has total of 47 chromosome instead of 46 chromosome. o This extra genetic material causes the physical and cognitive delays associated with Down's syndrome. o There is a well recognised association with advancing maternal age, the risk considerably increases in women > 35 years of age. o Advanced paternal age has very little effect. Clinical features o Most striking feature in the neonate is hypotonia and although the diagnosis is usually evident at this time, it may sometimes be missed if the baby is very premature or his facial features are concealed by ventilatory apparatus. o Other clinical features include :? 1. General :- Mental retardation, sho stature 2. Cranio-facial Brachycephaly, epicanthic fold, protruding tongue, small ears, upward sloping palpebral fissures, strabismus, nystagmus, Brushfied spots in iris. 3. Limbs :- Fifth finger clinodactyly, single palmar crease (simian crease), wide gap between first and second toes. 4. Congenital hea disease :- Common AV canal, A SD, VSD, PDA, fallot tetralogy. 5. GIT :- Anal atresia, Duodenal atresia. 6. Increased incidence of leukemia (1%).
Decreased humerus length
Decreased nuchal fold thickness
Decreased femur length
Duodenal atresia