Cleidocranial dysplasia diagnosis: case report
Abstract
Cleidocranial dysplasia is a rare syndrome that has as main clinical findings changes in bones of the neurocranium and viscerocranium, clavicular, and teeth, although it can affect other bones. Its etiology originates from a defect of the gene CBFA1 of chromosome 6 p21, whose function is the differentiation of osteoblasts. Evidence suggests that this gene also acts in the participation of odontoblasts differentiation. The main clinical alterations are short stature, enlarged head, prolonged retention of deciduous teeth, delayed eruption of permanents, and presence of innumerable supernumeraries. The objective of this study is to report the diagnosis of cleidocranial dysplasia in a 4-year-old female patient with light brown skin color in a family health unit. The main clinical findings were prominence of the frontal and parietal bosses, ocular hypertelorism, and depressed nasal bridge and shoulders with hypermobility. The imaging examinations showed clavicular hypoplasia and changes in tarsal bones without major abnormalities in facial radiograph.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Irisin Enhances Osteoblast DifferentiationIn Vitro
- Glucocorticoids suppress Wnt16 expression in osteoblasts in vitro and in vivo
- Interaction between Schwann Cells and Osteoblasts In Vitro
- Administration of cinnamaldehyde promotes osteogenesis in ovariectomized rats and differentiation of osteoblast in vitro
- The Effect of the Major Components of Fructus Cnidii on Osteoblasts In Vitro
- Estrogen depletion alters osteogenic differentiation and matrix production by osteoblasts in vitro
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.