Title |
Ehlers-Danlos syndrome versus cleidocranial dysplasia
|
---|---|
Published in |
Italian Journal of Pediatrics, May 2014
|
DOI | 10.1186/1824-7288-40-49 |
Pubmed ID | |
Authors |
Maria Francesca Bedeschi, Francesca Bonarrigo, Francesca Manzoni, Donatella Milani, Maria Rosaria Piemontese, Sophie Guez, Susanna Esposito |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 40% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 5 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 11 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 3 | 27% |
Student > Ph. D. Student | 2 | 18% |
Unspecified | 1 | 9% |
Student > Bachelor | 1 | 9% |
Lecturer | 1 | 9% |
Other | 2 | 18% |
Unknown | 1 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 36% |
Unspecified | 1 | 9% |
Nursing and Health Professions | 1 | 9% |
Biochemistry, Genetics and Molecular Biology | 1 | 9% |
Psychology | 1 | 9% |
Other | 1 | 9% |
Unknown | 2 | 18% |