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9 month old has 3 cafe au lait macules on chest and recent hx of fractuers after brother jumped on him. Does he have neurofibromasis vs child abuse vs osteogenesis imperfecta?

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Final answer:

The symptoms described could indicate neurofibromatosis, child abuse, or osteogenesis imperfecta, which all need to be considered based on the presentation of café au lait macules and a history of fractures in a young child. A clinical evaluation and possibly genetic testing are essential in order to reach a definitive diagnosis.

Step-by-step explanation:

The presence of three café au lait macules on a 9-month-old child's chest, combined with a recent history of fractures, may suggest several medical conditions, including neurofibromatosis, child abuse, or osteogenesis imperfecta. Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple café au lait spots and may be accompanied by bone abnormalities, including a predisposition to fractures. However, a formal diagnosis of NF1 usually requires the presence of at least six café au lait spots, among other criteria according to the National Institutes of Health. Osteogenesis imperfecta (OI), on the other hand, is a genetic disorder that primarily affects the bones, making them more brittle and prone to fractures. Child abuse is also a critical condition to consider, especially with a history of fractures which may not correlate with the provided history of trauma. The physical signs mentioned are not specific to child abuse but could signal neglect or physical harm, necessitating a thorough investigation. Clinical evaluation and genetic testing might be required to confirm a diagnosis of either NF1 or OI.

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