Article
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
American journal of medical genetics. Part A - 15 Feb 2008
Gripp Karen W, Johnson Caitlyn, Scott Charles I, Nicholson Linda, Bober Michael, Butler Merlin G, Shaw Linda, Gorlin Robert J
Abstract excerpt
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication,...
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