Back to Journals » The Application of Clinical Genetics » Volume 13

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

Authors Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H

Received 27 February 2020

Accepted for publication 28 May 2020

Published 11 August 2020 Volume 2020:13 Pages 147—150

DOI https://doi.org/10.2147/TACG.S251581

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer


Laura Torres-Canchala,1 Daniela Castaño,2 Nathalia Silva,2 Ana María Gómez,2 Alejandro Victoria,3 Harry Pachajoa4,5

1Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; 2Newborn Intensive Care Unit, Fundación Valle del Lili, Cali, Colombia; 3Obstetrical Intensive Care Unit, Maternal-Infant Department, Fundación Valle del Lili, Cali, Colombia; 4Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia; 5Genetics Service, Fundación Valle del Lili, Cali, Colombia

Correspondence: Laura Torres-Canchala
Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia
Tel +57-331-9090 ext 4022
Email laura.torres@fvl.org.co

Background: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor FGFR1 and FGFR2 genes, occurring in approximately 1:100,000 live births. PS has a wide range of clinical expression and severity, so early prenatal diagnosis is difficult and genetic counseling is desirable. We describe a PS newborn with her ultrasound and molecular studies.
Case Report: We describe a female term newborn with cloverleaf-shaped skull, facial hypoplasia, low ears, exophthalmos and wide, broad and deviated thumbs and hallux. The patient was diagnosed by ultrasound at 29 WGA and referred to a tertiary care hospital for her follow-up. Molecular test revealed a heterozygous pathogenic variant in intron 8 of the FGFR2 gene (FGFR2: c.940– 1G>C). It was a de-novo mutation. At 17 days of life, craniosynostosis correction and a Lefort-III frontomaxillary advancement were performed.
Conclusion: Pfeiffer syndrome is a devastating genetic disorder. Prenatal diagnosis according PS morphological features in prenatal ultrasound allows timely genetic counseling, early referral to third-level centers, and close follow-up in the prenatal and postnatal stages.

Keywords: Pfeiffer syndrome, acrocephalosyndactylia, craniosynostosis, fibroblast growth factor receptor 2

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]