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  • Title: Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case.
    Author: Gasztonyi Z, Barsi P, Czeizel AE.
    Journal: Am J Med Genet; 2000 Jul 31; 93(3):176-80. PubMed ID: 10925376.
    Abstract:
    We describe three unrelated women with hypogonadotropic hypogonadism and anosmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts and different degrees of asymmetric dysplasia of olfactory sulci were demonstrated by MRI. Both the father of Case 1 and the maternal aunt of Case 3 had anosmia, thus autosomal dominant inheritance seems to be likely. Patient 2 had Kallmann syndrome and FFU (femurfibula-ulna) dysostosis as a sporadic occurrence in her family.
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