A five-year-old child presents with inguinal freckling and bowed legs. What clinical criteria can be used to further confirm the diagnosis of neurofibromatosis?

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Neurofibromatosis (NF) is a genetic disorder that affects the nervous system. Diagnosis is based on specific clinical criteria. Optic nerve tumors (gliomas) are a common feature of NF type 1. Long-bone abnormalities, such as bowing (which can lead to pseudarthrosis), are also associated with NF type 1. Irregularly shaped raised lesions, known as neurofibromas, typically appear over time and can increase in number as the child gets older; these are a hallmark of NF. Café-au-lait spots are common in NF, but the presence of two or less does not meet the diagnostic criteria; typically, six or more are required. Similarly, having two or less tumors in the iris (Lisch nodules) does not align with the typical findings in NF.

A Five-Year-Old Child Presents with Inguinal Freckling and Bowed Legs