The early identification of hereditary syndromes is essential for planning interventions to reduce the risk of complications. Unfortunately, clinical phenotypes in the first years of life and in mild cases are often poorly characterized. Moreover, some disease symptoms are common for several genetic conditions. In this report, a child was initially misdiagnosed with hypermobile Ehlers-Danlos syndrome (EDS); the correct diagnosis of cleidocranial dysplasia (CCD), which was confirmed by genetic findings, was not made until several years later. This case teaches that diagnoses of hereditary syndromes must be performed carefully and take clinical history, symptoms, and genetic analyses into account.
Bedeschi, M. F., Bonarrigo, F., Manzoni, F., Milani, D., Piemontese, M. R., Guez, S., & Esposito, S. (2014, May 24). Ehlers-Danlos syndrome versus cleidocranial dysplasia. Italian Journal of Pediatrics. BioMed Central Ltd. https://doi.org/10.1186/1824-7288-40-49