Frontometaphyseal Dysplasia (FMD) 4
General: Sex-linked; rare; bony dysplasia.
Ocular: Strabismus; supraorbital deformity; hyperopia; hypertelorism; prominent supraorbital ridges.
Clinical: Agenesis of frontal sinuses; underdevelopment of mandible; metaphysis of tubular bones; deafness; hirsutism; teeth abnormalities; bony overgrowth at base of nose resulting in nasal obstruction and mouth breathing; facial nerve paralysis; normal intelligence.
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/.
Reardon W, et al. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? J Med Genet 1991; 28:622-626.
Stem SD, et al. The ocular and cosmetic problems in frontometaphyseal dysplasia. J Pediatr Ophthalmol 1972;9: 151-l60.
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