Falciform detachment with microphthalmia and microcephaly

General: Rare; both sexes affected; etiology unknown. 222g64c

Ocular: Microphthalmia; congenital cataract; corneal opacities; falciform folds; glaucoma; buphthalmos; congenital detachment of retina; vitreous hemorrhages; persistent hyperplastic primary vitreous; retinal neovascularization; retinal dysplasia.

Clinical: Microcephaly; vestigial cerebellum; cleft palate; micrognathia; hydrocephalus.

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Masuda Y. Two cases of ablatio falciforms congenita and two other cases of ocular congenital anomalies, which appeared in a pedigree with consanguineous marriages. J Clin Ophthalmol Tokyo 1962; 16:325.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Warburg M. Heterogeneity of congenital retinal non-attachment falciform folds and retinal dysplasia: a guide to genetic counseling. Hum Hered 1976; 26:137-l48.

Young ID, et al. Microcephaly, microphthalmos and retinal folds: report of a family. J Med Genet 1987; 24: 172-l84.