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• W2052207429 abstract "Neurofibromatosis (NF) is a genetic disorder of the neural sheet, affecting almost all organ systems.A family that consisted of the father and his three children, two males and one female, having NF-1 is evaluated in detail for cosmetic purposes. The routine preoperative laboratory examinations, including complete blood counts, serum biochemistries, urinary analysis, extremity and chest roentgenograms, ultrasounds of the abdomen and the affected regions, and pelvic computed tomographies, revealed characteristics of NF-1 and unexpected hyperbilirubinemia. The patients are evaluated further for the cause of hyperbilirubinemia by the fasting test. Variously localized plexiform neurofibromas of the three children are totally excised.The father was affected as a result of a mutation, and his three children had inherited the disease. The father, having subcutaneous neurofibromas, differs from the children, as they have elephantiasis neurofibromatosa. The children had various rare clinical presentations besides disfiguring deformities. Two male patients had retroperitoneal neurofibromas, and one had splenomegaly and osseous changes. Gilbert's disease was diagnosed, interestingly, and coincidentally in the three patients with elephantiasis due to NF-1.An interesting diagnosis of NF occurring coincidentally with Gilbert's disease in a family is reported. This clinical study is the first report of Gilbert's disease accompanying familial NF." @default.
• W2052207429 created "2016-06-24" @default.
• W2052207429 creator A5012286145 @default.
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• W2052207429 date "2003-07-01" @default.
• W2052207429 modified "2023-10-18" @default.
• W2052207429 title "Familial Neurofibromatosis-1 and Gilbert Syndrome" @default.
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• W2052207429 doi "https://doi.org/10.1046/j.1524-4725.2003.29192.x" @default.
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