Cleidocranial dysplasia: description with emphasis on the radiographic aspects of three cases in a family

Authors

  • Rodolfo Mendes Queiroz CENTROMED - Diagnóstico por imagem. Departamento de Radiodiagnóstico Santa Casa de Misericordia de Avaré. Departamento de Radiologia e Diagnóstico por imagem.
  • José Eduardo Martins Coelho Hospital São Jorge. Departamento de Radiologia e Diagnóstico por imagem. Barretos/SP
  • Leandro Fuso Ruiz Ultra-X Diagnóstico por Imagem. Departamento de Radiodiagnóstico. São José do Rio Preto/SP
  • Rodrigo Castro Cervato Imagem Center - Diagnóstico por Imagem. Departamento Radiodiagnóstico. São José do Rio Preto/SP
  • Mariana do Val Cervelatti Imagem Center - Diagnóstico por Imagem. Departamento Radiodiagnóstico. São José do Rio Preto/SP
  • Michela Prestes Gomes Faculdade EDUVALE
  • Marcos Pontes Muniz Imagem Center - Diagnóstico por Imagem. Departamento Radiodiagnóstico. São José do Rio Preto/SP

DOI:

https://doi.org/10.11606/issn.2176-7262.v50i6p371-376

Keywords:

Cleidocranial Dysplasia. Wormians. Hyperdontia. Syndrome.

Abstract

We describe three cases of cleidoclavicular dysplasia in a family, a rare genetic syndrome, presenting autosomal dominant behavior, but with 20-40% of sporadic cases, with an estimated incidence of 1-9/ 1.000.000. The study is based on a family consisting of the parent couple, two daughters and one child. In this group, the mother and the two daughters presented a short stature, with a frontal cranial frontotemporal region, prominent sagittal suture mainly in the anterior region, brachycephaly, mild exophthalmia, broad neck and reduction of the laterolateral diameter of the upper portion of the thorax. In the radiographs of the skull and chest, the presence of Wormian bones in the skull cap, supernumerary teeth, anomalies of tooth eruption and absent or rudimentary clavicles were observed in all three. In view of the findings, the diagnosis of cleidocranial dysplasia was established.

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Author Biography

  • Michela Prestes Gomes, Faculdade EDUVALE
    Faculdade EDUVALE. Docente do Curso de Bacharelado em Enfermagem. Avaré/SP.

Published

2018-05-21

Issue

Section

Case Reports

How to Cite

1.
Queiroz RM, Coelho JEM, Ruiz LF, Cervato RC, Cervelatti M do V, Gomes MP, et al. Cleidocranial dysplasia: description with emphasis on the radiographic aspects of three cases in a family. Medicina (Ribeirão Preto) [Internet]. 2018 May 21 [cited 2024 May 18];50(6):371-6. Available from: https://www.periodicos.usp.br/rmrp/article/view/146414