将SPONASTRIME发育异常的表型扩展至包括短牙根、低丙种球蛋白血症和白内障。
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
作者信息
Gripp Karen W, Johnson Caitlyn, Scott Charles I, Nicholson Linda, Bober Michael, Butler Merlin G, Shaw Linda, Gorlin Robert J
机构信息
Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
出版信息
Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155.
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.
SPONASTRIME发育不良（SD）是脊椎骨骺发育不良（SEMD）类型的常染色体隐性骨骼发育不良。该名称源于“伴有条纹状干骺端的脊椎和鼻骨改变”[Fanconi等人，1983年；《瑞士儿科学报》38:267 - 280]。我们追踪了两名先前报道的SD患者[Langer等人，1996年的患者3、4；《美国医学遗传学杂志》63:20 - 27]。自最初发表以来，在这些患者中发现了更多的体征。
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