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锁骨颅骨发育不全:一家系报告

Cleido cranial dysplasia: report of a family.

作者信息

González López Blanca Silvia, Ortiz Solalinde Clara, Kubodera Ito Toshio, Lara Carrillo Edith, Ortiz Solalinde Estela

机构信息

Research Center, School of Dentistry, School of Medicine, Autonomous University of Mexico State, México.

出版信息

J Oral Sci. 2004 Dec;46(4):259-66. doi: 10.2334/josnusd.46.259.

Abstract

A family case of Cleidocranial Dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. The citogenetic study with GTG band showed normal 46, XX. Bilateral audiometry in the mother demonstrated a mild to moderate hypoacustic condition. Radiological findings are presented and the importance of early diagnosis is discussed.

摘要

本文报告了一例锁骨颅骨发育不全的家族病例。对一位母亲和两名青春期女孩进行了检查。在所有这三例病例中,均对全身进行了一系列影像学检查。诊断出骨骼广泛性发育异常、乳牙滞留时间延长、恒牙萌出延迟以及多生牙。采用GTG显带技术进行的细胞遗传学研究显示核型正常,为46, XX。对母亲进行的双侧听力测定显示存在轻度至中度听力减退情况。本文展示了影像学检查结果并讨论了早期诊断的重要性。

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