Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabo...

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Publicado en:Clin Case Rep
Autores principales: van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4831400/
https://ncbi.nlm.nih.gov/pubmed/27099744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.511
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