On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association |
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Authors: | Jean-Pierre Fryns Eric Smeets H Van den Berghe |
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Institution: | Centre for Human Genetics, University of Leuven, Leuven Belgium |
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Abstract: | We describe a male child with prenatal growth retardation, true microcephaly, pedal lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed remnants of the posterior hyaloidea, more pronounced in the right eye where a retinal fold extended from the papilla into the vitreum, chorioretinal dysplasia with narrow retinal vessels, multiple large round areas of chorioretinal atroph and atrophic papillae. The associations "Microcephaly-chorioretinal dysplasia", "Microcephaly-retinal folds" and "Microcephaly-lymphoedema" have been reported as separate autosomal dominant conditions. The findings in the present child suggest that these associations could be variable expressions of the same autosomal dominant condition. |
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Keywords: | chorioretinal dysplasia lymphedema microcephaly MR/MCA syndrome |
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