نتایج جستجو برای: hanhart syndrome

تعداد نتایج: 621930  

Journal: :The British journal of ophthalmology 1973
R Westmore F A Billson

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); ...

Journal: :medical journal of islamic republic of iran 0
ma javadi from the department of ophthalmology, labbafinejad medical center, shahid beheshti university of medical sciences, tehran sa mirdehghan a bagheri b einollahi y dowlati the center for research and education in skin disease and leprosy, p.o. box 14155-6383, tehran, islamic republic of iran

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.

Journal: :Revista chilena de pediatría 1985

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...

Journal: :Archives of disease in childhood 1968
M Seip C B Van Der Hagen O Trygstad

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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