title: Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
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.
authors.affiliation: Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA. kgripp@nemours.org
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Caitlyn
authors.initials: C
authors.lastname: Johnson
authors.forename: Charles I
authors.initials: CI
authors.lastname: Scott
authors.forename: Linda
authors.initials: L
authors.lastname: Nicholson
authors.forename: Michael
authors.initials: M
authors.lastname: Bober
authors.forename: Merlin G
authors.initials: MG
authors.lastname: Butler
authors.forename: Linda
authors.initials: L
authors.lastname: Shaw
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Gorlin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D000361:Agammaglobulinemia / Q000150:complications* / Q000151:congenital; D002386:Cataract / Q000150:complications* / Q000151:congenital; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000150:complications / Q000175:diagnosis*; D010641:Phenotype; D014092:Tooth Root / Q000002:abnormalities*