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Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.

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.
AuthorsJulie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young
JournalOrphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 10 Pg. 71 (Jun 09 2015) ISSN: 1750-1172 [Electronic] England
PMID26051373 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • ANOS1 protein, human
  • Extracellular Matrix Proteins
  • Nerve Tissue Proteins
  • Receptor, Fibroblast Growth Factor, Type 1
Topics
  • Adult
  • Extracellular Matrix Proteins (genetics)
  • Female
  • Fetus (metabolism)
  • Humans
  • Kallmann Syndrome (diagnosis, genetics)
  • Mutation
  • Nerve Tissue Proteins (genetics)
  • Pedigree
  • Receptor, Fibroblast Growth Factor, Type 1 (genetics)

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