نتایج جستجو برای: hanhart syndrome
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The association of herpetoid corneal changes with circumscribed palmo-plantar keratoderma was first described by Richner (I938). Hanhart (1947) suggested that this represented a recessively inherited ectodermal syndrome, and the condition is sometimes called the Richner-Hanhart syndrome. Subsequent reports have been relatively few: Cremona (I 957); Kuske (I959); Franceschetti and Thier (I96I); ...
tyrosinemia type ii is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. this article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.
Introduction: Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme. Case Report: We report a 7-year-old female patient with complaints of hyperkeratosis lesions of palms and soles which started 3 years ago. Chromatography of serum amino acids showed a tyrosine...
It is now well established that pituitary dwarfism may be recessively inherited (Hanhart, 1925; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Rimoin, Merimee, and McKusick, 1966). The condition has repeatedly been observed in sibs (Biben and Gordan, 1955; Scharer and Prader, 1960; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Bierich, 1964; Brasel, Wright, Wilkins, and Blizzard, 196...
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