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.
Highlights
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
Importante lembrar também que apesar de não ser uma enfermidade grave, algumas das patologias diferenciais são mais críticas quanto ao prognóstico e morbidade, fazendo com a sua correta identificação não cause transtornos para o paciente
Summary
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. A displasia cleidocraniana (DCC) é uma rara síndrome esquelética não letal de origem genética, caracterizada por um conjunto de anomalias de estruturação e desenvolvimento ósseo, sendo alguns ossos mais comumente afetados e com apresentações típicas, como os três achados que indicam o diagnóstico: dentes supranumerários (hiperdontia), atraso no fechamento das suturas cranianas e hipoplasia/agenesia clavicular.[1,2,3]
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