Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataractsHow to cite this article: Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. 2008. Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia and cataracts. Am J Med Genet Part A 146A:468–473.

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, additional findings were identified in these patients. © 2008 Wiley‐Liss, Inc.