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

Abstract

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.

• Authors: Laura Torres-Canchala, Daniela Castaño, Nathalia Silva, Ana María Gómez, Alejandro Victoria, Harry Pachajoa
• Journal: The application of clinical genetics (Appl Clin Genet) Vol. 13 Pg. 147-150 ( 2020) ISSN: 1178-704X [Print] New Zealand
• PMID: 32848441 (Publication Type: Case Reports)
• Copyright: © 2020 Torres-Canchala et al.