Rogers Gary F, Edwards Paul D, Robson Carolyn D, Mulliken John B
Craniofacial Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
J Craniofac Surg. 2005 May;16(3):435-9. doi: 10.1097/01.scs.0000147385.76122.7c.
Twin studies have been widely used to investigate genetic versus environmental causality of malformations. While there are numerous reports of concordant sutural fusions in syndromic twins, there are few cases in siblings with nonsyndromic single suture synostosis. Lambdoidal synostosis has no clear genetic etiology. Discordant synostosis has been reported in one monozygotic twin; there is also an unsubstantiated report of concordance in dizygotic twins. We describe dizygotic twins concordant for contralateral lambdoidal synostosis. Mutational analysis for FGFR 1,2,3 was negative. Given the low incidence, absence of reported inheritability, and lack of documented concordance in monozygotic twins, the pathogenesis of isolated lambdoidal fusion can only be ascribed to stochastic influences.
双胞胎研究已被广泛用于调查畸形的遗传与环境因果关系。虽然有许多关于综合征性双胞胎中一致的缝合线融合的报道，但非综合征性单缝早闭的兄弟姐妹中病例很少。人字缝早闭没有明确的遗传病因。有报道称一对同卵双胞胎出现不一致的缝早闭；也有关于异卵双胞胎一致的未经证实的报道。我们描述了一对异卵双胞胎，他们双侧人字缝早闭情况一致。对FGFR 1、2、3的突变分析为阴性。鉴于发病率低、未报道有遗传性以及同卵双胞胎中缺乏记录在案的一致性，孤立性人字缝融合的发病机制只能归因于随机影响。
