Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
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.
Gripp
Karen W
KW
Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA. kgripp@nemours.org
Johnson
Caitlyn
C
Scott
Charles I
CI
Nicholson
Linda
L
Bober
Michael
M
Butler
Merlin G
MG
Shaw
Linda
L
Gorlin
Robert J
RJ
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*