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Am J Med Genet A. 2010 Jul;152A(7):1621-6. doi: 10.1002/ajmg.a.33200.

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

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  • 1Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK.


We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

(c) 2010 Wiley-Liss, Inc.

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