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8号染色体三体嵌合体的X线脑测量:三例报告

Roentgencephalometric measurements in trisomy 8 mosaicism: report of three cases.

作者信息

Beemer F A, van Doorne J M, Gorlin R J, Klep-de Pater J M

出版信息

J Craniofac Genet Dev Biol. 1984;4(3):233-41.

PMID:6501561
Abstract

Roentgencephalometric anomalies in three cases of Warkany syndrome (trisomy 8 mosaicism) are described. These include asymmetry of the mandible with a wide gonial angle and a high and narrow symphysis; SNA (anteroposterior position of maxilla) and SNB (anteroposterior position of mandible) values indicate a backward position of the mandible. Other findings point to a disturbance in the vertical growth of the facial skeleton. These measurements may explain at least part of the facial phenotype and may aid in diagnosis, especially in those cases with an uncertain clinical diagnosis and "normal" karyotype in peripheral blood lymphocytes.

摘要

本文描述了3例瓦尔卡尼综合征(8号染色体三体嵌合体)患者的X线头颅测量异常情况。这些异常包括下颌骨不对称,下颌角宽,颏联合高且窄;SNA(上颌骨前后位置)和SNB(下颌骨前后位置)值表明下颌骨后缩。其他研究结果表明面部骨骼垂直生长存在紊乱。这些测量结果至少可以解释部分面部表型,有助于诊断,尤其是对于那些临床诊断不明确且外周血淋巴细胞核型“正常”的病例。

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