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- W2080882557 abstract "The described patient since the infancy period presented macrosomy: body high and weight over the 97 percentile, thickened face features, macroglossia, big hands and feet. Additionally, defect of the posture and deformed knees were observed. At 5 years of age the girl manifested symptoms of precocious puberty (pubarche praecox) and increasing bone age. Subcutaneous nodules in the back region were also present. MR of the head revealed the tumor in the crossing of optic nerves. On support of the hormonal examinations diagnosis of central precocious puberty was established. The genetic examinations confirmed the diagnosis of neurofibromatosis type 1 (deletion 17q11.2). Since July 2001 the girl has been treated with a GnRH analog every 28 days. Inhibition of the progression of precocious puberty and acceleration of the bone age were obtained. Actually the bone age is normal according to the calendar age of the child. The control MR examination of the head doesn’t show symptoms of progression of the tumor in the region of optic nerves. The psychological examination of actually 17-year-old patient, beyond dyslexia, is normal." @default.
- W2080882557 created "2016-06-24" @default.
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- W2080882557 date "2011-09-01" @default.
- W2080882557 modified "2023-09-23" @default.
- W2080882557 title "Przedwczesne dojrzewanie płciowe w przebiegu neurofibromatozy typu 1 u 5-letniej dziewczynki" @default.
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- W2080882557 doi "https://doi.org/10.1016/s0031-3939(11)70586-8" @default.
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