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Question
Dear sir, Young couple closely relative have only 2 kids.Both are microcphalic +MR.Family history is +ve.2 uncles of the father[through his mother]each has one similar condition.1.What is the most likely mode of inheretance?what is the chance of getting another abnormal one?Does genetic study of the parents can point to the leader cause?What is the least intrauterine age at which one can diagnose this anomaly?Any surgical treatment for microcphaly?....thanks. Ref.No.Pedcall/2006/3642006d
Answer
Are the two kids male or female? The chances are high for an autosomal recessive condition. The ideal way to get the diagnosis is to screen the child who is more affected. Once the diagnosis has been established, then testing the parents for genetic testing would be useful if it is possible.
Microcephaly due to craniosynostosis may be treated with surgical decompression if it is causing raised intracranial tension. Else microcephaly is not to be treated.
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