Pokala P, Acs G
Division of Pediatric Dentistry, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York.
Pediatr Dent. 1994 Jul-Aug;16(4):306-9.
A case is reported of a patient with deletion of the long arm of chromosome 7 at a highly specific locus (7q32). In addition to significant craniofacial stigmata and global developmental delay, the patient presented with numerous clinical and radiographic dental anomalies observed over a 10-year period. Hypodontia, accessory roots, dens invaginatus, hypoplastic enamel, and numerous pulpal anomalies all were noted. Some of these dental findings suggest trichodentoosseous syndrome (TDO), although the other stigmata do not. The wide variety of dental findings in this patient may help to define the role of chromosome 7q32 in dental development.
报告了一例患者,其7号染色体长臂在一个高度特异性位点(7q32)发生缺失。除了明显的颅面特征和全面发育迟缓外,该患者在10年期间出现了众多临床和影像学上的牙齿异常。观察到了牙齿发育不全、额外根、牙内陷、釉质发育不全以及众多牙髓异常。这些牙齿表现中的一些提示毛发-牙-骨综合征(TDO),尽管其他特征并非如此。该患者多种多样的牙齿表现可能有助于明确7号染色体q32在牙齿发育中的作用。