锁骨颅骨发育不良的诊断参数:一种罕见疾病

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL
J. Ricardo, L. Ricardo, A. D. Caballero
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引用次数: 3

摘要

引言:锁骨颅骨发育不良是一种罕见的骨骼疾病,具有常染色体显性遗传特征,由CBFA1/RUNX2基因突变引起,其特征是颅骨缝合延迟、锁骨发育不全或发育不全、胸部狭窄和牙科手术异常。临床病例:16岁男性,身材矮小,肩膀下垂,胸部狭窄,锁骨窝发育不良,接近胸部前中线时肩膀活动能力强,口腔状况如继发牙列延迟萌出和牙齿拥挤,锁骨发育不全,报告了一例钟形胸部和多颗多生牙齿的病例,这些特征与裂颅发育不良相一致。结论:CDD具有临床和放射学特征,这些特征是做出正确诊断的重要参数。由于其病理学为常染色体显性遗传,因此对该家族的研究很重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Parámetros diagnósticos de la displasia cleidocraneal: una enfermedad poco frecuente
Introduction : cleidocranial dysplasia is a rare skeletal condition with an autosomal dominant genetic trait, caused by mutations in the CBFA1 / RUNX2 gene, characterized by delayed cranial suture closure, clavicular hypoplasia or aplasia, narrow thorax and abnormalities Dental procedures. Clinical case : 16-year-old male patient, with short stature, sagging shoulders, narrow chest, poorly developed clavicular pits, great mobility of the shoulders when approaching the anterior midline of the thorax, oral conditions such as delayed eruption of the secondary dentition And dental crowding, radiographically clavicular hypoplasia, bell-shaped thorax and presence of multiple supernumerary teeth, characteristics compatible with cleidocranial dysplasia, the case is reported. Conclusion : the CDD presents clinical and radiographic characteristics that serve as significant parameters to make a correct diagnosis, the study of the family is important since the pathology is of autosomal dominant inheritance.
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来源期刊
Archivos de Medicina
Archivos de Medicina MEDICINE, GENERAL & INTERNAL-
自引率
0.00%
发文量
15
审稿时长
24 weeks
期刊介绍: Para el desarrollo científico no sólo es necesario una constante labor investigadora, sino también una labor integradora y crítica de todos los resultados alcanzados en relación con un tema determinado que permita generar verdadero conocimiento sobre el mismo. Por otro lado, el crecimiento de la producción científica obliga a los profesionales sanitarios a constantes esfuerzos por mantenerse "al día" en cualquier disciplina de la medicina. Con esta doble función de integrar conocimientos y facilitar su difusión, nace Archivos de Medicina.
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