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Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
Author(s) -
Gripp Karen W.,
Johnson Caitlyn,
Scott Charles I.,
Nicholson Linda,
Bober Michael,
Butler Merlin G.,
Shaw Linda,
Gorlin Robert J.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32155
Subject(s) - hypogammaglobulinemia , cataracts , dysplasia , phenotype , medicine , dermatology , genetics , biology , pathology , gene , antibody
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from “ spo ndylar and na sal alterations with stri ated me taphyses” [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.