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真性半侧颜面短小畸形与假性半侧颜面短小畸形的鉴别诊断对术后长期预后的重要性。

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis.

机构信息

Department of Maxillofacial Surgery, Cleft lip and palate Center, University of Milano, Italy.

出版信息

J Craniomaxillofac Surg. 2011 Jan;39(1):10-6. doi: 10.1016/j.jcms.2010.03.003. Epub 2010 Apr 24.

Abstract

Long-term results after surgical treatment of the mandibular asymmetry in growing children with hemifacial microsomia (HFM), whether with osteotomies or distraction osteogenesis, have mostly shown a tendency towards the recurrence of the asymmetry. In contrast, in the literature we find sporadic case reports where the long-term post-surgical follow-up of patients diagnosed as HFM, are surprisingly stable. All these reports refer to patients who have substantially no soft tissue involvement, but only severe mandibular ramus and condyle deformities. The phenotypes of these cases are unexpectedly similar. The authors suggest, that it is possible that all of these cases might be isolated hemimandibular hypoplasias, misdiagnosed as HFM, which present a normal functional matrix and, therefore, tend to grow towards the original symmetry. Differential diagnosis between true HFM and this HFM-like isolated hemimandibular hypoplasia (pseudo-HFM) is of great importance given the very different prognosis and it is possible through the collaboration between not only surgeons and orthodontists, but also of geneticists and dysmorphologists.

摘要

在生长发育期因单侧颜面短小症(hemifacial microsomia,HFM)而行手术治疗的儿童中,无论是行骨切开术还是牵引成骨术,其下颌骨不对称的长期治疗结果大多都有复发的趋势。相比之下,我们在文献中发现了一些散发病例报告,这些报告中的 HFM 患者在长期手术后随访中,其结果出人意料地稳定。所有这些报告都涉及到仅存在严重下颌升支和髁突畸形、而无明显软组织受累的患者。这些病例的表型出人意料地相似。作者认为,这些病例都有可能是被误诊为 HFM 的孤立性单侧下颌骨发育不全,它们具有正常的功能性基质,因此有向原始对称生长的趋势。鉴于真性 HFM 和这种类似 HFM 的孤立性单侧下颌骨发育不全(假性 HFM)之间的预后差异很大,因此明确区分真性 HFM 和假性 HFM 非常重要,这需要外科医生、正畸医生,甚至遗传学家和畸形学家的共同协作。

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