Results 71 to 80 of about 6,419 (183)
Endocrinology Research and Practice, 2019 Castleman disease progresses with the enlargement of the affected lymph nodes and represented by a wide range of symptoms. This lymphoproliferative disease rarely affects the retroperitoneum. A patient with Klinefelter syndrome was admitted to our clinic
Sema HEPŞEN +7 more
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A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome
BMC NeurologyReport The rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis. Clinical Presentation and Genetics An infertile, 61-year-old man, presented with late adult onset of gait problems ...
Louise Adams, Jan De Bleecker
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The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation
The Turkish Journal of Pediatrics, 2013 Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures.
Banu Güzel Nur +4 more
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Unsuspected Klinefelter syndrome mosaicism presenting as osteoporosis: a case report
Archives of Medical Science, 2006 Hypogonadism secondary to genetic disorders like Klinefelter syndrome has been described as a cause of male osteoporosis, but the diagnosis is frequently missed or delayed because the clinical features are often subtle or at times normal.
Raj Mithun +5 more
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Bilateral congenital cataracts in an infant with Klinefelter syndrome
The Turkish Journal of Pediatrics, 2014 Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year.
Banu Güzel Nur +5 more
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Archives of Pathology and Laboratory Medicine, 1999 H F, Mark, D, Alter, P, Mousseau
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Egyptian Journal of Medical Human GeneticsBackground Genetic disorders are common in the Eastern Mediterranean region due to the high prevalence of consanguineous marriages. This study explores the awareness and attitudes of pregnant women in Mashhad, the biggest city in northeastern Iran ...
Nafiseh Todarbary +4 more
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Synchronous bilateral breast cancer in a patient with Klinefelter’s syndrome
International Journal of General Medicine, 2009 H M R Hoque, A Kothari, H Hamed, I S FentimanHedley Atkins Breast Unit, Guys’ Hospital, London, UKAbstract: Synchronous bilateral male breast cancer (MBC) is rare and only a few cases have been reported in the literature.
H M R Hoque +3 more
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Egyptian Journal of Medical Human GeneticsBackground A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes.
Sunny Kumar Jignesh Kumar Patel +2 more
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Clinical Case ReportsWe report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
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