Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
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ABSTRACT:
SUBMITTER: van Rij MC
PROVIDER: S-EPMC4831400 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Publications
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
van Rij Maartje C MC Jansen Fenna A R FA Hellebrekers Debby M E I DM Onkenhout W W Smeets Hubert J M HJ Hendrickx Alexandra T AT Gottschalk Ralph W H RW Steggerda Sylke J SJ Peeters-Scholte Cacha M P C D CM Haak Monique C MC Hilhorst-Hofstee Yvonne Y
Clinical case reports 20160316 4
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. ...[more]
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