| Title |
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
|
|---|---|
| Published in |
The Application of Clinical Genetics, April 2018
|
| DOI | 10.2147/tacg.s150982 |
| Pubmed ID | |
| Authors |
Hadeel Alrukban, David Chitayat |
| Abstract |
Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. This review lists the clinical characteristics and radiologic findings of all cases reported to date in English and discuss the possible etiology of this interesting fetal finding. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 4 | 16% |
| Student > Bachelor | 4 | 16% |
| Other | 2 | 8% |
| Professor > Associate Professor | 2 | 8% |
| Student > Doctoral Student | 1 | 4% |
| Other | 4 | 16% |
| Unknown | 8 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 48% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
| Nursing and Health Professions | 1 | 4% |
| Biochemistry, Genetics and Molecular Biology | 1 | 4% |
| Immunology and Microbiology | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 8 | 32% |
Attention Score in Context
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#20,964,263
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#1
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Outputs of similar age from The Application of Clinical Genetics
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