On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association

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.