Open AccessCleidocranial dysplasia: description with emphasis on the radiographic aspects of three cases in a family
Author(s) -
Rodolfo Mendes Queiroz,
José Eduardo Martins Coelho,
Leandro Fuso Ruiz,
Rodrigo Castro Cervato,
Mariana do Val Cervelatti,
Maria de Lourdes Contente Gomes,
Marcos Pontes Muniz
Publication year - 2018
Publication title -
medicina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.104
H-Index - 10
eISSN - 2176-7262
pISSN - 0076-6046
DOI - 10.11606/issn.2176-7262.v50i6p371-376
Subject(s) - cleidocranial dysplasia , brachycephaly , supernumerary , skull , medicine , anatomy , radiography , dysplasia , sagittal plane , short stature , orthodontics , dentistry , pediatrics , radiology , pathology
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.