Marshall (D) Syndrome (Atypical Ectodermal Dysplasia) 7
General: Autosomal dominant; variant 313i83d of ectodermal dysplasia; onset at birth.
Ocular: Myopia; congenital cataract (spontaneous absorption not uncommon); degenerative fluid vitreous; luxation of lens; cataract; shallow orbits.
Clinical: Facial malformation; saddle nose; hypohidrosis; partial deafness; flat or retracted midface.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger. 1976.
Marshall D. Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol 1958; 45[Part 2]:143-l56.
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/.
Stratton RF. et al. Marshall syndrome. Am J Med Genet 1991; 41:35-38.
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