Pediatric Surgery Service, Hospital HM Nens, Barcelona, Spain.
Pediatric Surgery Service, Virgen de la Arrixaca University Clinic Hospital, Murcia, Spain.
Pan Afr Med J. 2021 Apr 15;38:368. doi: 10.11604/pamj.2021.38.368.29204. eCollection 2021.
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.
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。