IMPE Abstracts

We describe a female patient with a contiguous gene deletion and duplication syndrome encompassing 223 genes, only manifesting features of BLM (Bloom Syndrome), AGLB1 (Fuchs' dystrophy) and ACAN (Aggreccan Gene Mutation). Our study was started with the observation and follow-up of a 8-year-old pre-term child with short stature (-2.8SD), a peculiar phenotype, microcephaly, ogival palate, short neck, wide nasal bridge, bushy eyebrows and eyelashes, scoliosis, umbilical hern...