MON-072 A 2 -Year Old Girl with Turner Syndrome and Neurofibromatosis Type 1
نویسندگان
چکیده
منابع مشابه
Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.
Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patie...
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Type2 autoimmune polyglandular (Schmidt) syndrome is defined by the occurrence of at least 2 out of 3 of the following manifestations, Addison's disease, Hypothyroidism and Type 1 diabetes mellitus. APS2 is a rare condition with an incidence of 1–2/100 000 per year. Prevalence of APS-2 is most happening in the range of 20-40 years of age. Here we present a patient who complained about loss of ...
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An unusual case of a 2 1/2-year-old girl with reflex sympathetic dystrophy (RSD) of the left arm is described. She is the youngest RSD case ever presented in the literature. Upper extremity involvement is also rare in childhood RSD. She had both physical and psychological trauma in an earthquake preceding the disease. The association of RSD with a psychological disorder is stressed and awarenes...
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Neurofibromatosis (NF) is an autosomal dominant disorder that affects the bone, the nervous system, soft tissue and the skin. NF is a neurocutaneous condition that can involve almost any organ system existing in two subtypes. NF1 is the most common subtype and is referred to as peripheral NF. Plexiform neurofibromas are diffuse, elongated fibromas coursing along the nerves. These lesions freque...
متن کاملRare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex
We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proban...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.1798