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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2015

Open Access 01-12-2015 | Letter to the Editor

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Authors: Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

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Abstract

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. In relevant family history, ultrasound monitoring can detect KS associated signs before birth and thus enable neonatal diagnosis and early management. These observations also underline the importance of genetic counselling for patients who may transmit KS to their offspring.
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Metadata
Title
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
Authors
Julie Sarfati
Claire Bouvattier
Hélène Bry-Gauillard
Alejandra Cartes
Jérôme Bouligand
Jacques Young
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-015-0287-9

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