[HTML][HTML] Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
MC van Rij, FAR Jansen, DMEI Hellebrekers… - Clinical case …, 2016 - ncbi.nlm.nih.gov
MC van Rij, FAR Jansen, DMEI Hellebrekers, W Onkenhout, HJM Smeets, AT Hendrickx…
Clinical case reports, 2016•ncbi.nlm.nih.govSevere 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.
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.
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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