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Paediatric

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Genetic Disorders

Question
44 out of 49
 

Which of the following is true regarding phocomelia: (LQ)



A It is a defect in long bones

B Absence of brain

C It is a defect in short bones

D Reduplication of bones

Ans. A

It is a defect in long bones

1. Phocomelia means a great reduction in size of proximal parts of the limbs

2. It is a congenital malformation in which the proximal portions of the extremities are poorly developed or absent.

3. As a result the hands and feet are attached to the trunk directly or by means of a poorly formed bone.

4. It occurs due to intake of thalidomide Q, a sleeping pill, during early pregnancy.

Genetic Disorders Flashcard List

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