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 (femur-fibula-ulna) dysostosis as a sporadic occurrence in her family. (C) 2000 Wiley-Liss, Inc.
|Number of pages||5|
|Journal||American journal of medical genetics|
|Publication status||Published - Jun 12 2000|
- Femur-fibula-ulna dysostosis
- Kallmann syndrome
ASJC Scopus subject areas