Article
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
American journal of medical genetics. Part A - 1 Oct 2024
Burrill Natalie, Crane Haley, Khalek Nahla, Soni Shelly, Wild K Taylor, Skraban Cara, McManus Morgan, Szigety Katherine, Oliver Edward R, Partridge Emily, Agarwal Sonika, Fisher Allan, Wang Jing, Moldenhauer Julie S
Abstract excerpt
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and...
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