PRIMER CASO DE DISPLASIA TANATOFÓRICA TIPO 1 EN LOS ANDES PERUANOS CON VARIANTE PATOGÉNICA EN EL GEN FGFR3: FIRST CASE OF THANATOPHORIC DYSPLASIA TYPE 1 IN THE PERUVIAN ANDES WITH A PATHOGENIC VARIANT IN THE FGFR3 GENE

Carlos Hugo Torres Salinas; Yesenia Ledesma Porras

doi:10.25176/RFMH.v23i4.5814

Authors

Carlos Hugo Torres Salinas Facultad de Medicina Humana. Universidad Continental, Perú https://orcid.org/0000-0001-9259-3963
Yesenia Ledesma Porras Facultad de Medicina Humana. Universidad Continental, Perú

DOI:

https://doi.org/10.25176/RFMH.v23i4.5814

Keywords:

Skeletal dysplasia, thanatophoric dysplasia, fibroblast growth factor receptor type 3

Abstract

Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, characterized by axial-appendicular skeletal disproportions as well as short stature, frontal bossing, cloverleaf skull, narrow chest, femoral bowing, and micromelia. These phenotypic characteristics are the result of pathogenic variants in the fibroblast growth factor receptor 3 (FGFR-3) gene, located on chromosome 4p16.3

For its study, obstetric ultrasound, physical examination and radiographic findings are important. However, the diagnosis must be confirmed by genetic study in order to discover new variants or associations, as well as to reveal its actual casuistry in a certain region.

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Author Biographies

Carlos Hugo Torres Salinas, Facultad de Medicina Humana. Universidad Continental, Perú

Pediatrician. EsSalud Jauja Bicentennial Hospital. Peru

Yesenia Ledesma Porras, Facultad de Medicina Humana. Universidad Continental, Perú

Genetic Doctor. Ramiro Prialé EsSalud National Hospital. Peru.

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