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: 2.16). 07/2010; 152A(7):1621-6. DOI: 10.1002/ajmg.a.33200
Source: PubMed


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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Available from: William Dobyns, Oct 05, 2014
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    ABSTRACT: Primary lymphedema in children, especially generalized disease with facial involvement, is rare. We sought to report 3 childhood cases of lymphedema with associated neurologic findings and to provide a pathophysiologic explanation for this association. Clinical observations, electroencephalography, and neuroimaging studies were evaluated. Microcomparative genomic hybridization was performed in 1 case. The 3 children had primary lymphedema of all 4 limbs and the face. This was confirmed by lymphoscintigraphy, which showed hypoplasia of vessels and hypofixation of lymph nodes. They had nonspecific neurologic disorders and electroencephalography abnormalities, without intellectual deficit. Neuroimaging revealed normal findings. Microcomparative genomic hybridization in 1 patient revealed no cytogenetic anomaly. The outcome was fatal in 1 case with development of visceral lymphedema and coma. Genetic studies were performed in only 1 case. These observations suggest that neurologic assessment and electroencephalography are indicated for patients with lymphedema of the limbs and face to identify this syndrome. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
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