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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Vydáno v:Clin Case Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
Témata:
Case Reports
On-line přístup: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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