Which of the following characteristics are TRUE or FALSE about osteopetrosis in a child? 1. Growth retardation 2. Mental retardation 3. Multiple fracture 4. Cataract 5. Hepatosplenomegaly
1,3, 5 True & 2,4 False
1,3,4, True & 2,5 False
1.3,4, True & 5,2 False
2,3 False & 1,4,5 True
It is an autosomal recessive disorder in which paly calcified cailaginous intercellular ground substance is not regularly reabsorbed and replaced by regular osteoid tissue & bone. Clinical features are Multiple fractures, hepatosplenomegaly, growth retardation, blindness, dental problems, macrocephaly, deafness, etc. Ref: Ghai, 6th Edition, Page 600; Nelson, 18th Edition, Page 2882