Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders.

Eur J Med Genet

Division of Dysmorphology and Teratology, Department of Pediatrics, University of California, San Diego, USA; Clinical Genetics, Vall d'Hebron Hospital, UAB, Barcelona, Spain.

Published: January 2017

Fetal alcohol spectrum disorders (FASD) include physical and neurodevelopmental abnormalities related to prenatal alcohol exposure. Some neuroimaging findings have been clearly related to FASD, including corpus callosum and cerebellar anomalies. However, detailed studies correlating with specific FASD categories, that is, the fetal alcohol syndrome (FAS), partial FAS (pFAS) and alcohol related neurodevelopmental disorders (ARND), are lacking. We prospectively performed clinical assessment and brain MR imaging to 72 patients with suspected FASD, and diagnosis was confirmed in 62. The most frequent findings were hypoplasia of the corpus callosum and/or of the cerebellar vermis. Additional findings were vascular anomalies, gliosis, prominent perivascular spaces, occipito-cervical junction and cervical vertebral anomalies, pituitary hypoplasia, arachnoid cysts, and cavum septum pellucidum.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.003DOI Listing

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