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

Zoltán Gasztonyi, Péter Barsi, Andrew E. Czeizel

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4 Citations (Scopus)

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 (femur-fibula-ulna) dysostosis as a sporadic occurrence in her family. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)176-180
Number of pages5
JournalAmerican journal of medical genetics
Volume93
Issue number3
DOIs
Publication statusPublished - Jun 12 2000

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Keywords

  • Anosmia
  • Femur-fibula-ulna dysostosis
  • Kallmann syndrome
  • MRI

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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