Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / congenital
  • Cataract / complications*
  • Cataract / congenital
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis*
  • Phenotype*
  • Tooth Root / abnormalities*