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Question |
Dear sir The product of consanguinous marriage is 6 children.1st&2nd are both male died between 2y-3y sharing similar picture.Both born normally thriving satisfactorily till beyond 1st year when they start to show physical& mental retardation ended with crippled spastic state.The 3rd is twin female is surviving with sever deaf-mutism.The 4th pregnancy is female with deaf-mutism.The 5th is male & normal.What is the most likely inhereted disease they have?
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Answer |
Autosomal recessive seems to be the most likely cause. It is difficult to comment on the disease without having examined the child and knowing further details of the history. However since the predominant symptoms were spasticity, white matter disease should be rule out.
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