Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case

We describe three unrelated women with hypogonadotropic hypogonadism and an osmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts an d different degrees of asymmetric dysplasia of olfactory sulci were demonst rated 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 (femur-fibula-ulna) dysostosis as a sporadic occurrence in her family. Am. J, Med. Genet, 93:176-180, 2000. (C) 2000 Wi ley-Liss, Inc.