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

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK.
American Journal of Medical Genetics Part A (Impact Factor: 2.3). 07/2010; 152A(7):1621-6. DOI: 10.1002/ajmg.a.33200
Source: PubMed

ABSTRACT 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.

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Oct 5, 2014