Spear Gerald S
Department of Pathology and Laboratory Medicine, School of Medicine, Irvine School of Medicine, University of California, Medical Sciences I D 440, Irvine, CA 92697-4800, USA.
Am J Med Genet A. 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473.
The findings in a newborn male with agenesis of parietal bones, gracile long bones, and hypoplasia of the spleen are presented. Although parietal agenesis is unique, the findings are compatible with 18 previously reported cases characterized by cranial hypomineralization, Kleeblatschädel, gracile bones, and splenic aplasia/hypoplasia, the nomenclature for which has been descriptive: gracile bone disorders, "osteocraniostenosis," "osteocraniosplenic syndrome." The term "osteocraniostenosis" may be inappropriate in that craniostenosis has been infrequently reported, a feature also of importance with respect to the pathogenesis of the Kleeblatschädel. The group likely reflects heterogeneous etiology and pathogenesis. Precedent, however, including animal models, justifies consideration of genetic aberrations, in particular, mutations in homeobox genes. (c) 2006 Wiley-Liss, Inc.
本文报告了一名患有顶骨发育不全、长骨纤细和脾脏发育不全的新生男婴的检查结果。虽然顶骨发育不全是独特的，但这些发现与之前报道的18例病例相符，这些病例的特征为颅骨矿化不足、克氏颅骨、骨骼纤细以及脾发育不全/发育不良，其命名一直是描述性的：骨骼纤细疾病、“骨颅狭窄症”、“骨颅脾综合征”。“骨颅狭窄症”这个术语可能并不恰当，因为颅缝早闭很少被报道，这也是与克氏颅骨发病机制相关的一个重要特征。该组病例可能反映了病因和发病机制的异质性。然而，包括动物模型在内的先例证明，考虑基因畸变是合理的，特别是同源框基因突变。(c) 2006威利 - 利斯公司。
