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 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.
Gasztonyi
Z
Z
WHO Collaborating Centre for the Community Control of Hereditary Diseases--Family Planning Centre, National Centre for Public Health, Budapest, Hungary.
Barsi
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P
Czeizel
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AE
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D005192:Family Health; D005260:Female; D005269:Femur / Q000002:abnormalities; D005360:Fibula / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009830:Olfactory Bulb / Q000473:pathology; D014457:Ulna / Q000002:abnormalities