Resumo

TORRES-SALINAS, Carlos  e  LEDESMA-PORRAS, Yesenia. First case of thanatophoric dysplasia type 1 in the peruvian andes with pathogenic variant in the FGFR3 gene. Rev. Fac. Med. Hum. [online]. 2023, vol.23, n.4, pp.168-172.  Epub 30-Nov-2023. ISSN 1814-5469.  http://dx.doi.org/10.25176/rfmh.v23i4.5814.

Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, characterized by disproportions of the axial-appendicular skeleton in addition to short stature, macrocephaly, frontal prominence, narrow chest, femoral bowing, and micromelia. These phenotypic characteristics are the result of pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR-3), 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 make known its real casuistry in a given region.

Palavras-chave : Skeletal dysplasia; thanatophoric dysplasia; fibroblast growth factor receptor type 3. (Source: DeCS - BIREME).

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