نتایج جستجو برای: h syndrome
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introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...
Background H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation Here we have pres...
H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...
guillain barre syndrome (gbs) is an inflammatory, usually demyelinating, polyneuropathy; clinically characterized by acute onset of symmetric progressive muscle weakness with loss of myotatic reflexes. thirty five patients with gbs, defined clinically according to the criteria of asbury and cornblath, were recruited from three hospital affiliated to tehran university of medical sciences.as a co...
conclusions the current study indicated that h. pylori infection occurs at a higher rate in patients with down syndrome and mental retardation. this may provide more reasons to control the transmission of h. pylori among them. results the differences between the groups were compared by t-test and x2 test. seropositivity for h. pylori was significantly higher in patients with down syndrome and m...
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