Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress Article Swipe
Sidra Saleem
,
Arsalan Anwar
,
Pulwasha Maria Iftikhar
,
Zauraiz Anjum
,
Zemal Tariq
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.7759/cureus.5101
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.7759/cureus.5101
Spondyloepiphysal dysplasia (SED) is an inheritable dysplasia of the bone due to a defect in collagen. It has a prevalence of 3.4 per million. It has two important types, congenita and tarda, which are differentiated by the age presentation and heritage mode. SED congenita can present a significant reduction in the upper segment to a lower segment ratio. Collagen mutation results in abnormal growth and development of spine and limb bones. The complex pattern of craniofacial anomalies is due to defective ossification and connective tissue problem. We here present the case of a three-hour-old girl with a short trunk and craniofacial anomalies that brought in respiratory distress to the neonatal intensive care unit. This condition is rare and thus poses a major diagnostic challenge at an early stage.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.7759/cureus.5101
- https://assets.cureus.com/uploads/case_report/pdf/21109/1567754947-20190906-16634-1ew8fwj.pdf
- OA Status
- diamond
- Cited By
- 4
- References
- 12
- Related Works
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- OpenAlex ID
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Raw OpenAlex JSON
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https://openalex.org/W2958336503Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.7759/cureus.5101Digital Object Identifier
- Title
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Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory DistressWork title
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articleOpenAlex work type
- Language
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enPrimary language
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2019Year of publication
- Publication date
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2019-07-08Full publication date if available
- Authors
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Sidra Saleem, Arsalan Anwar, Pulwasha Maria Iftikhar, Zauraiz Anjum, Zemal TariqList of authors in order
- Landing page
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https://doi.org/10.7759/cureus.5101Publisher landing page
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https://assets.cureus.com/uploads/case_report/pdf/21109/1567754947-20190906-16634-1ew8fwj.pdfDirect link to full text PDF
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
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https://assets.cureus.com/uploads/case_report/pdf/21109/1567754947-20190906-16634-1ew8fwj.pdfDirect OA link when available
- Concepts
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Medicine, Respiratory distress, Craniofacial, Ossification, Dysplasia, Trunk, Anatomy, Pediatrics, Pathology, Surgery, Psychiatry, Ecology, BiologyTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2025: 2, 2022: 1, 2021: 1Per-year citation counts (last 5 years)
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12Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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