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June 2015

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11

Author Affiliations
  • 1Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City
  • 2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City
  • 3Howard Hughes Medical Institute, University of Iowa, Iowa City
JAMA Ophthalmol. 2015;133(6):720-721. doi:10.1001/jamaophthalmol.2015.199

The syndrome now known as microcephaly associated with congenital lymphedema and chorioretinopathy (MLCR) was first described in 1980 by Alzial et al.1 Microcephaly with chorioretinal dysplasia has been reported to be inherited in an autosomal dominant or autosomal recessive manner and has a variety of associations, including lymphedema and mental retardation. Our patient displayed all 4 of these clinical characteristics and appeared to manifest an autosomal dominant inheritance pattern.

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