title: On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.
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 atrophy 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.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: E
authors.initials: E
authors.lastname: Smeets
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002829:Choroid / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D015792:Retinal Dysplasia / Q000235:genetics*