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...

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Bibliographic Details
Published in:American journal of medical genetics 2000-07, Vol.93 (3), p.176-180
Main Authors: Gasztonyi, Zoltán, Barsi, Péter, Czeizel, Andrew E.
Format: Article
Language:English
Subjects:
Adolescent
Adult
anosmia
Biological and medical sciences
Brain - pathology
Endocrinopathies
Family Health
Female
Femur - abnormalities
femur-fibula-ulna dysostosis
Fibula - abnormalities
Genes, Dominant
Humans
Hypothalamus. Hypophysis. Epiphysis (diseases)
Kallmann syndrome
Kallmann Syndrome - genetics
Kallmann Syndrome - pathology
Magnetic Resonance Imaging
Male
Medical sciences
MRI
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Olfactory Bulb - pathology
Ulna - abnormalities
Citations: Items that this one cites
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Description
Summary: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. Am. J. Med. Genet. 93:176–180, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20000731)93:3<176::AID-AJMG2>3.0.CO;2-C