Expanding the Phenotype of SPONASTRIME Dysplasia to Include Short Dental Roots Hypogammaglobulinemia and Cataracts

摘要

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” [; Helv Paediat Acta 38: 267–280]. We follow two previously reported patients with SD [Patients 3, 4 in ; Am J Med Genet 63: 20–27]. Since the original publication, additional findings were identified in these patients.