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- W2006157052 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." @default.
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- W2006157052 date "2008-06-28" @default.
- W2006157052 modified "2023-09-26" @default.
- W2006157052 title "On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association" @default.
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- W2006157052 doi "https://doi.org/10.1111/j.1399-0004.1995.tb04072.x" @default.
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