You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
Mendeley readers
| Title |
A newborn with Cornelia de Lange syndrome: a case report
|
|---|---|
| Published in |
Cases Journal, November 2008
|
| DOI | 10.1186/1757-1626-1-329 |
| Pubmed ID | |
| Authors |
Hakan Uzun, Dursun Ali Senses, Munevver Uluba, Kenan Kocabay |
| Abstract |
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs. |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 2 | 13% |
| Other | 2 | 13% |
| Student > Bachelor | 2 | 13% |
| Researcher | 2 | 13% |
| Student > Ph. D. Student | 2 | 13% |
| Other | 3 | 20% |
| Unknown | 2 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 53% |
| Nursing and Health Professions | 1 | 7% |
| Biochemistry, Genetics and Molecular Biology | 1 | 7% |
| Sports and Recreations | 1 | 7% |
| Engineering | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 3 | 20% |