Spherophakia and Metaphyseal Dysplasia Clinical CharacteristicsOcular Features: The corneas and anterior chambers were normal in the son but the lenses were small and spherical and had colobomatous defects. The father developed a retinal detachment in one eye and elevated intraocular pressure. The morphology of the lenses in the father is unknown. Systemic Features: The diaphyses of the long bones are thickened with relative sparing of the small bones in the extremities. The epiphyses become more irregular later in life. The vertebrae are deformed with flattening. The result is brachymelia and moderately severe dwarfism. Pigeon breast deformity can be present. GeneticsA father and son have been reported with this combination of findings suggesting autosomal dominant inheritance. No locus or mutation has been identified. Pedigree: Autosomal dominantTreatmentTreatment Options: Unknown. ReferencesArticle Title: Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement Verloes A, Van Maldergem L, de Marneffe P, Dufier JL, Maroteaux P. Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. J Med Genet. 1990 Jul;27(7):467-71. PubMed ID: 2395168 Read more about Spherophakia and Metaphyseal Dysplasia
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement Verloes A, Van Maldergem L, de Marneffe P, Dufier JL, Maroteaux P. Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. J Med Genet. 1990 Jul;27(7):467-71. PubMed ID: 2395168
