| Title |
A newborn with very rare von Voss-Cherstvoy syndrome and literature review
|
|---|---|
| Published in |
International Medical Case Reports Journal, July 2016
|
| DOI | 10.2147/imcrj.s108746 |
| Pubmed ID | |
| Authors |
Deepak Sharma, Basudev Gupta, Sweta Shastri, Pradeep Sharma |
| Abstract |
von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q). von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q). This adds a second case of this chromosome anomaly described in this syndrome. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor > Associate Professor | 1 | 13% |
| Researcher | 1 | 13% |
| Lecturer | 1 | 13% |
| Unknown | 5 | 63% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 25% |
| Computer Science | 1 | 13% |
| Unknown | 5 | 63% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 July 2016.
All research outputs
#13,475,860
of 22,881,154 outputs
Outputs from International Medical Case Reports Journal
#113
of 375 outputs
Outputs of similar age
#187,024
of 351,890 outputs
Outputs of similar age from International Medical Case Reports Journal
#7
of 14 outputs
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