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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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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831400/
https://www.ncbi.nlm.nih.gov/pubmed/27099744
http://dx.doi.org/10.1002/ccr3.511
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author 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
author_facet 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
author_sort van Rij, Maartje C.
collection PubMed
description 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. Metabolic investigations invariably show increased serum lactate and pyruvate levels.
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spelling pubmed-48314002016-04-20 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene 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 Clin Case Rep Case Reports 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. Metabolic investigations invariably show increased serum lactate and pyruvate levels. John Wiley and Sons Inc. 2016-03-16 /pmc/articles/PMC4831400/ /pubmed/27099744 http://dx.doi.org/10.1002/ccr3.511 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
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
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title_full Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title_fullStr Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title_full_unstemmed Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title_short Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
title_sort polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the fbxl4 gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831400/
https://www.ncbi.nlm.nih.gov/pubmed/27099744
http://dx.doi.org/10.1002/ccr3.511
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