Primer caso de displasia tanatofórica tipo 1 en los andes peruanos con variante patogénica en el gen FGFR-3 / First case of thanatophoric dysplasia type 1 in the peruvian andes with pathogenic variant in the FGFR3 gene
Rev. Fac. Med. Hum
; 23(4): 168-172, oct.-dic. 2023. graf
Article
in Spanish
|
LILACS-Express
| LILACS
| ID: biblio-1559087
Responsible library:
PE1.1
RESUMEN
RESUMEN La displasia tanatofórica tipo 1 es una forma de displasia esquelética letal, se caracteriza por desproporciones del esqueleto axial-apendicular además de talla baja, macrocefalia, prominencia frontal, tórax estrecho, arqueamiento femoral y micromelia. Dichas características fenotípicas son el resultado de variantes patogénicas en el gen del receptor 3 del factor de crecimiento de fibroblastos (FGFR-3), localizada en el cromosoma 4p16.3 Para su estudio la ecografía obstétrica, el examen físico y los hallazgos radiográficos son importantes. Sin embargo, se debe confirmar el diagnóstico mediante estudio genético a fin de descubrir variantes o asociaciones nuevas, así como dar a conocer su casuística real en una determinada región.
ABSTRACT
ABSTRACT 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.
Full text:
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Collection:
International databases
Database:
LILACS
Language:
Spanish
Journal:
Rev. Fac. Med. Hum
Journal subject:
Cincias da Sa£de
/
Medicina
Year:
2023
Document type:
Article
Affiliation country:
Peru
Institution/Affiliation country:
Facultad De Medicina Humana. Universidad Continental/PE