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

Gripp Karen W. | Zendy; Johnson Caitlyn | Zendy; Scott Charles I. | Zendy; Nicholson Linda | Zendy; Bober Michael | Zendy; Butler Merlin G. | Zendy; Shaw Linda | Zendy; Gorlin Robert J. | Zendy

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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.

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