Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature
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چکیده
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an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles
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15 صفحه اولFanconi-Bickel syndrome--two cases report.
A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients reveale...
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McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملCytomegalovirus Retinitis in an Immunocompromised Infant: A Case Report and Review of the Literature
PURPOSE To describe a case of bilateral cytomegalovirus retinitis (CMVR) in an immunocompromised infant. METHODS A 4-month-old male infant with severe combined immunodeficiency syndrome was examined for the presence of CMVR. Ocular involvement was recorded and monitored by digital imaging. RESULTS The child had bilateral CMVR, with a fine granular pattern, present both in the peripheral ret...
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Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...
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ژورنال
عنوان ژورنال: World Journal of Clinical Cases
سال: 2020
ISSN: 2307-8960
DOI: 10.12998/wjcc.v8.i21.5467