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

Author

van Rij MC, Jansen FA, Hellebrekers DM, Onkenhout W, Smeets HJ, Hendrickx AT, Gottschalk RW, Steggerda SJ, Peeters-Scholte CM, Haak MC, and Hilhorst-Hofstee Y

Abstract

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.

Published
2016
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