Hi,I am Dr. Shanthi.E (General & Family Physician). I will be looking into your question and guiding you through the process. Please write your question below.
my daughter has osteogenesis imperfecta and she s 3 months old. I was wondering why It s not on the standard PKU testing with newborns? it s missed a lot and people are taken to jail for child abuse when really their child was not diagnosed with it earlier in life.
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What Causes Osteogenesis Imperfecta In An Infant?
Hello dear Understand your concern. Osteogenesis imperfecta also called brittle bone disease. It is autosomal dominant disease. It is not due to child abuse. Do body take you jail. It is due to defect in Gene of collagen or may be hereditary. Because of defects in collagen: produce brittle bone along with connective tissue order. Hope this may help you Best regards Dr. Sagar