Baraitser-Winter syndrome in a male patient with a uterus
Pediatrics(2020)
摘要
Introduction Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disorder with fewer than 50 cases reported in the literature. Features include facial dysmorphism, ocular coloboma, brain abnormalities, hearing defects, intellectual disability and kidney abnormalities. We describe a case of a male infant with de novo mutation for BRWS with a new and unexpected finding of a uterus and vagina in the pelvis. This is the first reported case of a …
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关键词
uterus,male patient,syndrome,baraitser-winter
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