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锁骨颅骨发育不全症:一例病例报告并附临床图片。

Cleidocranial dysostosis: a case report with clinical illustration.

机构信息

Pediatric Surgery Service, Hospital HM Nens, Barcelona, Spain.

Pediatric Surgery Service, Virgen de la Arrixaca University Clinic Hospital, Murcia, Spain.

出版信息

Pan Afr Med J. 2021 Apr 15;38:368. doi: 10.11604/pamj.2021.38.368.29204. eCollection 2021.

Abstract

Cleidocranial Dysostosis or Dysplasia (CCD) is an infrequent clinical condition, with an autosomal dominant hereditary mode of inheritance. Triad lesions: multiple supernumerary teeth, partial or complete absence of the clavicles and open sagittal sutures and fontanelles. Nine-year-old female patient comes to our service for outpatient consultation with the main complaint of upper limbs mobility restriction with shoulders hypermotility. The chest X-ray showed partial absence of the clavicles and a cone-shaped thorax. The diagnosis of CCD was performed. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.

摘要

锁骨颅骨发育不全症(CCD)是一种罕见的临床病症,具有常染色体显性遗传模式。三联征病变:多发性额外牙齿、锁骨部分或完全缺失以及矢状缝和囟门开放。一名 9 岁女性患者因上肢活动受限伴肩部活动过度来到我院门诊就诊。胸部 X 光片显示锁骨部分缺失和圆锥形胸廓。诊断为 CCD。这些患者的治疗需要多学科方法,包括矫形和牙科矫正。早期诊断可以为治疗提供适当的指导,为患者提供更好的生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef4f/8308938/ee654d5a6929/PAMJ-38-368-g001.jpg

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