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Radiology case reports
Jan, 2023;18 (1): 289-294.

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.

Rengin Ibrahim, Omar Hamadah, Mahmoud Abdul-Hak, Aladdin Alshawa, Mohamad Alhasan Alouda
Author Information
  1. Rengin Ibrahim: Department of Oral Medicine, Faculty of Dental Medicine, Damascus University, Meza Highway, Damascus, Syria.
  2. Omar Hamadah: Department of Oral Medicine, Faculty of Dental Medicine, Damascus University, Meza Highway, Damascus, Syria.
  3. Mahmoud Abdul-Hak: Department of Oral Medicine, Faculty of Dental Medicine, Damascus University, Meza Highway, Damascus, Syria.
  4. Aladdin Alshawa: Department of Oral Medicine, Faculty of Dental Medicine, Damascus University, Meza Highway, Damascus, Syria.
  5. Mohamad Alhasan Alouda: Department of Endodontics, Faculty of Dental Medicine, Damascus University, Damascus, Syria.
PMID: 36388612 DOI: 10.1016/j.radcr.2022.10.038

Abstract

Cleidocranial dysplasia (CCD) is a rare genetic skeletal syndrome. The most common features are open fontanelles, hypertelorism, mid-face retrusion, hypoplasia, or aplasia of the clavicles leading to excessive shoulder mobility, dental abnormalities such as supernumerary, and impacted teeth. This case report describes a 31-year-old male with CCD with several unusual symptoms like generalized joint hypermobility, skin laxity, and smooth skin, which leads to set a diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS). To our knowledge, this is the first case report in the literature that describes a patient with these 2 distinct syndromes CCD and hEDS.

Keywords

Computed tomography Joint hypermobility Open fontanelles Skin laxity Supernumerary teeth

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